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Bibliography

Ayitey-Smith E, Boye G L, Nichani N, Lewis R A (1974): Effect

of hyperthermia on acute chloroquine toxicity in rabbits.

Eur J Pharmac 25: 210-215.

Abel EL, Moore C (1987): Effects of paternal alcohol consump-

tion in mice. Alcoholism (NY) 11(6): 533-535 (ADAI ji).

Abel EL (1991): Paternal alcohol consumption affects grooming

response in rat offspring. Alcohol 8(1): 21-3(ADAI j1).

Abel EL(1992): Paternal exposure to alcohol. In: Sonderegger

TB (ed). Perinatal substance abuse: research findings

and clinical implications. Baltimore: The Johns

Hopkins University Press, pp.132-160 (ADKAI bk) Call

No: RG 627.6 D79 P443.

Abel EL (1995): A surprising effect of paternal alcohol treatm-

ent on rat fetuses. Alcohol Health Res World 12(1): 1-6

(ADAI j1).

Akatsuka A, Nishiya 0, Kitagawa T, Kageyama A, Inana I,

Nakagome Y (1979): Trisomy 9 mosaicism with punctuate

mineralization in developing cartilages. Eur J Pediatr

131: 271-275.

Allderice PW, Browne N, Murphy DP (1975): Chromosome 3

duplication of 21-qter deletion p25-pter syndrome in

children of carriers of a pericentric inversion inv (3) (p25

q21). Am J Hum Genet 27 : 699.

Anssary MK (1995): A genetic study of congenital Malformatio-

Bibliography

ns in a sample of new borns in Sharby university

maternity Hospital Alexandra [Thesis]. Alexandra Egypt,

university

Auguliar—Martiez A, Lautre-Ecenarro MJ, Urbina—Gonasalves

F, Cristobal-Gil Mc, Guerra-Rodrigues P, Garcia-Perez

(1988): Cytogenic abnormalities in dyskeratosis conge-

nita. Report of five cases. Clin Exp Dermatol 13:100—

104.

Back E Hertel C, Vogel W, Bettecken F, Theisen M (1977):

Deletion of the long arm chromosome 4[46,XX, del(4)

(q31)] in a patient with congenital anomalies. Ann

Genet (Paris) 20: 294-296.

Bakir F, Damluji SF, Amin-Zaki L, Murtadha HI, Clarkson TW,

Smith JC, Doherty RA (1973): Methylmercury poisoning in

Iraq. Science 181: 320.

Berger R (1971): Trisomy 13. Presse Med 79: 1969-1972.

Berger R (1972): Trisomy 21. Rev Pediatr 8: 287-301.

Berger A, Dar H, Reiter A, Tal Y (1983): Chromosome 4q dele-

tion syndrome : A case report. lsr J Med Sci 19:850-852.

Bergsma D (1975): New Chromosomal and malfunctioning

syndromes. The National foundation - March of Dimes.

Birth defects: Original article serves vol. XI, No.5.

Berry AC, Mutton DE, Lewis DGM (1978): Mosaicism and the

Bibliography

trisomy 8 Syndrome. Clin Genet 14: 105 — 114.

Berry RJ, Buehler JW, Strnuss LT (1987): Birthweight specific

infant mortality congenital abnormalities. Public Health

Report 102: 171-181.

Billerback AEC (1986) : Estudo citogenetico em criancas com

atraso do desenvolvimento newurpsocornotor associado

a anomalies congenitas multiplas. Tese de Doutorado,

lnst Bioic USP, Sao Paulo, pp 219.

Bochkov NP, Kuleshov NP, Chebotarev AN, Aleking VI, Midian

SA (1974): Population cytogenetic investigation of

newborns In Moscow. Humangenetik 22: 139-152.

Borovik CL, Brunoni D, Guldugli-neto J (1987): Duplication 2q

31qter due to maternal (2; 14) translocation. Rev Bras

Genet 2: 253-260.

Borovik CL, Decio Brunoni, Aurea ES, Horacio B, et al. (1989):

Chromosome abnormalities in selected newborn infants

with malformations in Brazil. Am J Med Genet 34: 320-

324.

Butler JL, Snodgrass GJ, France NE, Sinclair L, Russel LA

(1965): E (16-18) Trisomy syndrome: Analysis of 13

cases. Arch Dis child 40: 600-611.

Butler LJ, Palmer AV, Spencer T, Tabios Broadway R, Wall WJ

(1987): A new interstitial deletion of chromosome No. 4

del(4) (q22::q25). Clin Genet 31:199-205.

Bibliography

Cake H, Lenzer I (1985): Effects of paternal ethanol treat-

ment on fetal outcome. Psychol Rep 57:51-7 (ADAI rp

00349).

Campbell JM, Williams J, Batcup G (1986): Interstitial deletion

of chromosome 4q diagnosed prenatally. J Med Genet26:

366-368.

Carter CO (1970): The genetics of congenital malformations in

E.E. Phillip, J Barnes and M Newton (Edu): Scientific

foundations of obstetrics and gynecology, London William

Heinemann. Ltd pp. 665-670.

Carr DH (1970): Heredity and embryo. Science J (London) 6:75

Carr DH (1971): Chromosomal studies in selected spontaneous

abortions polyploidy in man. J Med Genet 8:164.

Carr DH, Law EM, Ekin JG (1972): Chromosomal studies in sel-

ected spontaneous abortions, IV unusual cytogenetic

disorders. Teratology 5: 49-56.

Casperson T, Zech L, Johansson C, Modest EJ (1970): Identif-

ication human chromosome by DNA binding fluorescent

agents. Chromosoma 30:215.

Centeno MF, Beltran PA, Ruiz LC, Centeno RT, Macias PJ

Martin BM (2001): chromosome aberrations in malformed

newborn. An Esp Pediatr 54(6) : 582-587.

Challacombe DN, Taylor A (1969): Monosomy for a G autoso-

iv

Bibliography

me. Arch Dis Child 44:113.

Chance PF, Smith DW (1978): Hyperthermia and meningomye-

locele and anencephaly. Lancet 1: 769-770.

Chaturvedi P, Banerjee KS (1989): Spectrum of congenital mal-

formations in newborns from rural Maharashtra. Indian

J Pediatr 56: 501-507.

Chaturvedi P, Banerjee KS (1994): Spectrum of congenital mal-

formations in newborns from rural Maharashtra. Indian J

Pediatr 56: 501-507.

Choudhary AR, Mukherjee M, Sharma A, Talaukdar G, Ghosh

PK (1989): Study of 1,26,266 consecutive births for major

congenital defects. Indian J Pediatr 56: 493 — 499.

Christo GG, Urala MS, Duvvi HV, Venkatesh A (1987): Maternal

hyperthermia as a teratogenic agent. Ind Pediatr 24: 597-

600.

Chudley AE, Pabello PD, Bingham W, Golubuff N (1982): Letter

to the editor: del (4)(q31) syndrome. Am J Med Genet 13

: 341-343

Cicero TJ (1994): Effects of Paternal exposure to alcohol on

Offspring development. Alcohol Health Res World 18(1):

37-41.

Coco R, Penchaszadeh VB (1982): Cytogenetic findings in 200

children with mental retardation and multiple congenital

Bibliography

anomalies of unknown cause. Am J Med Genet 12:155-

173.

Conen PE, Erkman B (1966): Frequency and occurrence of

chromosomal syndromes. IIE trisomy. Am J Hum Genet

18: 387-398.

Cohen MM Jr (1989): Letter to the Editor: Holoprosencephaly

and cytogenetic findings : Further information. Am J Med

Genet 34:265.

Cooper LZ (1975): Congenital Rubella in the United States: In

S: Krugman and AA Gershon Progress in clinical and bio-

logical research, infections of the fetus and newborn

infant. New York. Alan R. Liss Inc. Vol 3 P.I.

Datta V, Chaturvedi P (2000): Congenital Malformations in rur-

al Maharashtra. Indian Pediatrics 37: 998-1001.

Davis JM, Clarren SK, Salk DJ (1981): Brief Clinical report:

The del(4)(q31) syndrome-A recognizable disorder with a

typical Robin malformation sequence. Am J Med Genet

9:113-117.

Del Valle Torrado M, Labarta JD, Migliorini A (1982): Interst-

itial deletion of the long arm of chromosome 4 in a pati-

ent with mental retardation and abnormal phenotype. J

Med Genet 19:477.

Dudgeon JA (1976): Infective causes of human malformations.

Br Med J 32: 77.

vi

Bibliography

Edwards JH, Harnden DG, Cameron AH, Crosse VM, Works OH

(1960): A new trisomic syndrome. Lancet 1: 787-790.

Edwards MJ (1968): Congenital malformations in the rat follow-

ing induced hyperthermia during gestation. Teratology 1:

173-178.

Edwards MJ (1972): Influenza, Hyperthermia and congenital

malformations. Lancet 5: 320-321.

Edwards MJ, Mulley R, Ring S, Wanner RA (1974): Mitiotic

activity in guinea pig embryos following brief maternal

brief maternal hyperthermia. J Embryol Exp Morph 32:

593-602.

Edwards MJ, Shoita K, Smith MSR, Walsh DA (1995): Hyp-

erthermia and birth defects. Reprod Toxicol 9: 411-425.

Emery AEH, Rimoln DL (1990): Principles and Practice of

Medical Genetics, II edition New York, Churchill living

stone.

Evan TN, Brown GC (1963): Congenital Malformations and

viral Infections. Am J Obstet Gynecol 87: 749-761.

Farhud DD, Walizadeh Gh-R, Kamali MS (1986): Congenital

malformations and genetic disease in Iranian infants.

Hum Genet 74:382-385.

Feingold M, Atkins L (1973): A case of trisomy of Trisomy 9.

VII

Bibliography

J Med Genet 10:180-184.

Finell RH, Buehler BA, Kerr BM (1992): Clinical and experi-

mental studies linking oxidative metabolism to phenytoin

induced teratogenesis. Neurology 42: 25-31.

Ford CE, Hamerton JL (1956): The chromosomes of man.

Nature 178: 1020.

Ford CE, Jones KW, Polani PE, Almeida JC, Briggs JH(1959):

A Sex Chromosomal Anomaly in A Case of Gonadal

Dysgenesis (Turners syndrome). Lancet 1: 711-713.

Friedler G (1988): Effect on Future Generations Of Paternal

Exposure to Alcohol And Other Drugs. Alcohol Health

Res World 12(2): 126-129.

Ganguin G, Rempt E (1970): Streptomycin behandlung in

der Schwanger schaft and inher answerkung auf des

gehor des kindes. Z Laryngol Rhinol Otol 49: 496.

German J, Kowal A, Ehlers KH (1970): Trimethadione and

HumanTeratogenesis. Tetralogy 3: 349.

German J (1979): Roberts syndrome I. Cytologic evidence for a

disturbance in chromatin pairing. Clin Genet 16: 441-

447.

Ghosh L, Bali L (1963): Congenital malformations in newborn.

Indian J Child Hlth 12: 448-455.

viii

Bibliography

Golbus MS (1980): Teratology For The Obstetrician: Current

Status. Obstet Gynecol 55 :269.

Gray JE, Mutton De, Ashby DW (1962): Pericentric Inversion

of Chromosome 21. A Possible Further cytogenetic

Mechanism in Mongolism. Lancet 1:21.

Graw SW, Skandalakis JE (1972): Embryology for surgeons:

The embryological basis for the treatment of congenital

defects. Philadelphia W.B. Saunders Co.

Gregg N M (1941): Congenital Cataract Following German me-

asles in the Mother. Trans opthamol Soc Aust 3:35.

Grouchy J De, Turleau C, Leonard C (1971): Etude en fluor-

escence dune trisomie C mosaique problement 8 : 46,

XY /47,XY? 8+. Ann Genet 14: 69-72.

Grouchy J De., Turleau C (1984): Clinical atlas of human

chromosomes. 2 nd edition. Wiley Medical Publication,

New York.

Grouchy J De (1974): Clinical Cytogenetics: In the cell nucleus

New York, Academic press. Vol. 2373-2436.

Grouchy J De (1977): Annulation De Reconnaissance De Pat-

ernite Fondee Sur La Non Identite Des Chromosome Y

unjudgement Du Tribunal De Paris. Ann Genet 20: 133-

135.

Hafez M et al (1985): Study of Congenital malformations in

he

Bibliography

Egypt. Egyp J Pediatr 2: 69-93.

Hafez M, Mashem N (1988): Perinatal screening for neural

tube defects among Egyptians Brain dysfunction 1988 1:

90-102.

Halmesmaki E, Valimaki M, Roine R, Ylikorkala 0 (1989):

Maternal and paternal alcohol consumption and misc-

arriage. Br J Obstet Gynaecol 08:188-91 (ADAI rp

03473).

Hamerton JL (1971): Human Cytogenetics. Clinical cytogene-

tics 11: 65-112

Hanson JW, Myrianthopoulos NC, Harvey MAS (1976): Risks

to offspring of women treated with hydantion anticonvul-

sant with emphasis on fetal hydantion syndrome.J Pediatr

89: 662.

Haslam RHA, Broske SP, Moore CM, Thomas GH, Neil CA

(1973): Trisomy 9 mosaicism with multiple congenital

anomalies. J Med Genet 10: 180 —184.

Hemrajani KH (1971): Congenital malformations in the newborn

Pediatr Clin India 6: 51-54.

Hoekelman RA, Pless IB (1988): Decline in mortality among

young Americans during the 20 th century; Prospects

for reaching nationality mortality reduction goals for 1990

.Pediatrics 82: 582-595.

Holmes LB (1979): Radiations; in VC Vaughan, RJ Mc Kay, RD

Bibliography

Behrman (Eds): Nelson textbook of pediatrics. 11 th Eds.

Philadelphia W B Saunders Co.

Holzgreve W, Carey JC, Hall BD (1976): Warfarin induced fetal

abnormalities. Lancet 2: 914.

Hook EB, Hamerton J L (1977): The frequency of chromosome

abnormalities detected in consecutive newborn studies —

difference between studies- result by sex and by severity

of phenotypic involvement; in E B Hook & I H Porter(Eds)

.Population Cytogenetics: Studies in Humans. New York,

Academic press.

Impkins D, Hunter A, Uchida I, Roberts MH (1982): Two childr-

en with deletion of the long arm of chromosomes 4 with

break point at band q33. Clin Genet 22: 348-355.

Ingall D, Norins L (1976): Syphilis: in Remington JS , Klein Jo

(Ed): Diseases of the Fetus and Newborn Infants

.Philadelphia WB sounders Co.

Ingham PW (1988): The molecular genetics of embryonic patt-

ern in Drosophila. Nature 335: 25

Jenkins MB, Kriel R, Boyd L (1981): Trisomy 14 Mosaicism in

a translocation 14q 15q carrier : Probable dissociation

and lsochromosome formation. J Med Genet 18: 68-71.

Judge C (1973): A sibship with the pseudothalidimide syndro-

me and an association with Rh incompatibility. Med J

Aust 2: 280-281.

xi

Bibliography

Jyothy A, Kumar KS, Mallikarjuna GN, Babu Rao V, Uma Devi

B, Sujatha M, Reddy PP (2001): Parental age and the

origin of extra Chrom 21 in Down syndrome. J Hum Genet

46 (b): 347-50.

Kalra A, Kalra K, Sharma V, Singh M, Dayal RS(1984): Co-

ngenital malformations. Indian Pediatr 24: 945-950.

Karim et al (1970): Congenital foetal malformations in U.A.R.

Aln Shams Med J 21: 527-533.

Khrouf N, Spang R, Podgorna T, Miled SB, Moussaoni M, Chi-

bani H (1986): Malformations in 10,000 consecutive bir-

ths in Tunis. Acta Pediatr Scand 75: 534- 539.

Knox EG, Lancashire RJ (1991): Epidemiology of congenital

malformation. Her Majesty's stationary office, London.

Kulkarni ML, Kurian M (1990): Consanguinity and its effect

on fetal growth and development : A South Indian Study.

J Med Genet 27: 348-352.

Kulshteshtra R, Nath LM, Upadhyay P (1983): Congenital

malformations in live born infants in a rural community.

Ind Pediatr 20: 45-49.

Lafouracade J, Lejeune J, Berger R, Rethore MO, Archam-

bault L (1965) . : La trisome 18, Cinq Observations Nove-

llas. Revue de la literature. Sem Hop Paris 41: 24-35.

xii

Bibliography

Lamy M, Josson, Grouchy J De, Bitan A (1965): Anomalies

des gonosomes, XX e congres de I' association des Pedi-

ati•es de langue francaise, Nancy, Tome 3 Paris Expa-

nsion Scientifique.

Layde PM, Edmonds LD, Erickson JD (1980): Maternal fever

and neutral tube defects. Teratology 211: 105-108.

Lech H. Kubalska J, Wisniewski L (1982): The child with con-

genital anomalies and interstitial deletion of the long arm

of chromosome 4. Klin Padiatr 194: 117-119.

Leck I (1978): Maternal Hyperthermia and anencephaly. Lancet

1: 671-672.

Leck I (1993): The contribution of epidemiological studies to

understanding of human Malformations; In Stevenson RE,

Hall JG, Goodman RM (eds): Human malformations and

related abnormalities. Oxford Monographs on Medical

Genetics, Oxford. No. 21(1): 65-93.

Leitcher J (1986): Effect of paternal Alcohol ingestion on fetal

growth in rats. Growth summer 50(2): 228-333 (ADAI rp

01142).

Lejeune J, Gautier M, Turpin R (1959): les chromosomes hum-

ains en culture de tissues C.R, Acad Sci (Paris) 248: 602

—603.

Lejeune J, Lafouracade J, Berger R (1965): Les aberrations

autosomoques in Maladies Humaineg paraberrations chr-

XIII

Bibliography

omosmiques , XX e congres des Pediatres de langue Fra-

ncaise, nancy, Tome III, Paris, Expansion scientifique.

Lejeune J (1975): Reflexions surla debiute de intelligence des

enfants trisomiques 21. C R Acad Sci Pontif 3: 1-12.

Lenz W (1966): Caused By Drugs in Pregnancy. Am J Dis

Child 112: 99.

Letz (1992): Epidemiology of birth defects among children in

eight provinces in China. Chung Hua I huseh tsa Chin

(Taipei) 72:412-415.

Lipson A, Collis J, Green C (1982): Partial deletion of the long

arm o f chromosome 4: a clinical syndrome. J Med Genet

19: 155-157.

Mace SE, Macintyre MN, Turk KB, Johnson WE (1970):

The trisomy 9 syndrome: Multiple congenital anomalies

. and unusual pathological findings. J pediatr 92: 446-448.

Madhavan, Venkataramaiah (1970): Congenital malformations:

A Clinicopathological study. Ind J Pediatr 37: 139.

Martinez —Frias ML, Garcia MMJ, Caldas CF, Congero GMP,

Bermejo E, Rodrigues PE (2001): High maternal fever

during gestation and severe congenital limb disruptions.

Am J Med Genet 98 (2): 201-203.

Mathur BC, Karan S, Vijayadevi KKL (1975): Congenital

malformations in newborns. Indian Pediatr 12: 179-183.

xiv

Bibliography

Matsumoto HG, Goyo L, Takevchi T (1965): Fetal Minimata

Disease; A Neuropathological study of two cases of intra-

uterine intoxication by methyl and mercury compound. J

Neuropathol Exp Neurol 24: 563.

Mc Bride WG (1961): Thalidomide and Congenital abnormalit-

es. Lancet 2: 1358.

Mc Clain RM, Rohrs JM (1985): Potentiation of the teratoge-

nic effects and altered disposition of dipheylhydantoin

in mice fed on a purified diet. Toxicol Appl Pharmacol

77: 86-93.

Mc Vicar J (1976): Antenatal detection of fetal abnormality;

Physical Methods. Br Med J 32: 4.

Mehes K, Bajnoczky K (1981): Incidence of major chrom-

osomal abnormalities. Clin Genet 19:75-76.

Merchant SM (1989): Indian Council of Medical Research Cen-

ter, Mumbai. Annual Report P 27.

Michell JA, Packman S,Loughman WD, Fineman RM, Zackai E,

Patil SR, Emanuel B, Bartley JA, Hanson JW (1981):

Deletions of different segments of the long arm of chrom

osomes 4. Am J Med Genet 8: 73-89.

Miller P, Smith DW, Shepard TH (1978): Maternal hyperth-

ermia as a possible cause of anencephaly. Lancet 1: 519-

521.

xv

Bibliography

Milunsky A, Graef JW, Gaynor MF(1968) : Methotrexate

Induced. Congenital malformations. J Pediatr 72: 790

Mishra PC, Baveja R (1989): Congenital malformations in

newborns; A prospective Study. Indian Pediatr 26: 32-35

Mital Grewal(1968): I J Pediatr 36: 356-359

Mitra (1960) WHO bulletin 34: supplement.

Moerman P, Fryns JP(1988) : Holoprosencephaly and postax-

ial polydactyly: another observation. J Med Genet 25:

501-502.

Moore KL (1966): The sex chromation. Phildelphia WB Saun-

ders Co.

Moorhead PS, Nowel PC, Mellman WJ, Battips DM, Hunger-

ford DA (1960) : Chromosome preparation of leucocytes

cultured from human peripheral blood. Exptl Cell Res

20: 613.

Mulvill JJ, Yeager AM (1976): Fetal alcohol syndrome. Terato-

logy 13:345.

Murakami U (1970): Embryo fetotoxic effects of some organic

mercury compounds. Annu Rep Res Inst Environ Med

Nagoya University 18: 33-43.

Neelam G (2000): Congenital malformations in Simla Indian J

Pediatr 67(4).

xvi

Bibliography

Neu RL, Gardner LI (1975): Abnormalities of the sex chromo-

somes in L.I. Gardner (Ed): Endocrine and Genetic Dis-

eases of childhood and Adolescence. 2 nd Ed. Phildelphia

WB Saunders Co. pp. 797-814.

Nielsen J, Holm V, Haahr J (1975): Prevalence of Edwards

syndrome; Clustering and seasonal variation. Human

Genetik 26: 113-116.

Noonan JA, Ehmke DA (1963): Associated noncardiac malf-

ormations in children with congenital heart disease. J

Pediat 63: 468-470.

Ochey CH, Feldman GV, Macaulay ME, Delaney MJ(1967):

A large deletion of long arm of chromosome no.4 in a

child with limb abnormalities. Arch Dis child 42: 428-434.

Patau PE, Smith DW, Therman E, Inhorn SL, Wagner HP

(1960): Multiple congenital Anomaly caused by an extra

autosome. Lancet: 790-793.

Persaud TVN (1979): Teratogenesis ; Experimental Aspects

and Clinical Implications. Jena, Gustar Fischer Verlag.

Peterka M, Tvrdek M, Likovsky Z, Peterkova R, Fara M

(1994): Maternal hyperthermia and infection as one as

possible causes of orofacial clefts. Acta Chir Plast 36(4):

114-118.

Penrose LS, Smith GF (1966): Down's anomaly. Boston

Bibliography

little Brown.

Pfeitter RA (1977): Trisomy 8. In J.J Yunis; New Chromoso-

mal syndromes, Academic Press, New York pp. 197-217.

Pleydell MJ (1960): Anencephaly and other congenital abnor-

malities. An epidemiological study in Northampshire. Br

Med J 1: 309-314.

Polani PE (1961): Turner's syndrome and allied conditions.

Brit Med Bull 17: 200-206.

Purvandara VN, Stevenson AC, Johnston HA, Stewart HIP, Gol

ding DR (1966): Congenital malformations: a report of

study of series of consecutive births in 24 chromosomes

births in 24 centers.Bull WHO 34: 9.

Randle-Short TJ (1962): Tetracycline in teeth and bone. Lancet

1: 118.

Rasmussen F (1969): The Oto-toxic effect of streptomycin and

dihydro-streptomycin on the foetus. Scand J Respir Dis

50: 61.

Rethore MO, V Couturier J, Carpentier S, Ferrand J,

Lejeune J (1975) : Trisomie 14 en Mosaique chez une

enfant mutimalformee. Ann Genet 18: 71-74.

Rethore MO, Aurias A, Couturier J, Dutrillaux B, Prier M,

Lejeune J (1977) :Chromosome 8 : Trisome complete et

trisomes .segmentaires Ann Genet 20 :5-11.

xviii

Bibliography

Riccardi VM (1977): Trisomy 8: An international study of 70

patients birth defects orig Art sex XIII — 3C : 171-184.

Rinchik EM, Bultman SJ, Horthemke B (1993): A gene for the

mouse pink-eyed dilution Locus and for human type II

occulocutaneous albinism. Nature 361: 72-76.

Rittler M, Liascovich R, Lopez —Camelo J, Castilla EE(2001):

Parental Consanguinity in specific types of congenital

anomalies. Am J Med Genet 102(1): 36-43.

Robinson A, Linden MG (1993): Clinical genetic handbook,

Boston, Blackwell Scientific publications.

Schardein JL (1993): Chemical induced birth defects inter-

national Research and Devt Corporation Mattawan

MI pp 230-238.

Schinzel A (1981): Incomplete trisomy 22. 11 mosaic trisomy

22 and the problem of full trisomy 22. Hum Genet 56 :

269-273.

Searle AG, Edwards JH, Hall JG (1994): Mouse homologues

of human hereditary diseases. J Med Genet 31: 1-19.

Seeman P, Sellers EM, Roschlan WH (Eds) Principles of

Medical Pharmacology. III ed. Toronto University of

Toronto Press.

Seriver CR, Neal JL, Saginur R, Clow A (1973): The frequency

Bibliography

of genetic diseases and Congenital malformations

among patients in a Pediatric hospital. Canad Med Assoc

J 108: 1111-1115.

Server JL (1970): Rubella, cytomegalorius in FC Fraser, VA

Mc Kusick and R Robinson (Eds): Congenital mal-

formation proceedings. 3 rd International conference

New York, Excerpta Medica Foundation. pp377.

Serville F, Broustet A (1977): Pericentric inversion and

partial monosomy 4q associated with congenital

anomalies. Hum Genet 39: 239-242.

Sharma AK, Sharma A (1990): Chromosome techniques:

Theory and practice. III edition, Butterworths London.

Shepard TH (1992): Catalog of teratogenic agents. The Johns

Hopkins University Press, Baltimore and London pp. 378-

381.

Shiota K (1980): Epidemiological study of neural tube defects

in human embryos. Teratology 22: 29A.

Shiota K (1982): Neural tube defects and maternal Hyper-

thermia in early pregnancy; epidemiology in a human

embryo population. Am J Medical Genet 12: 281-288.

Shiota K, Tanimura T (1988): Holoprosencephaly, ventricular

septal defect and postaxial polydactyly in a human

embryo. J Med Genet 25: 502-503.

xx

Bibliography

Shroff M. Israel J, Rosenthal F (1981): Congenital

anomalies associated with partial deletion of the long

arms of chromosomes 4 (46,XY, del (4)(q31). Am J hum

Genet 33:122A.

Singh M. Jawadi MH, Arya LS, Fatima (1982): Congenital

malformations at birth among live born infants in

Afghanistan : A prospective study : Indian J Pediatr

49: 331-335.

Skreb N, Fraz Z (1963): Developmental abnormalities in the rat

induced by heat shock. J Embroyl Exp Morph 11: 445

-457.

Smith DW, Patau K, Therman E, Inhorn SL (1962): A new

autosomal trisomy syndrome. J Pediatr 57 : 338-345.

Smith DW, Patau K, Therman E, Inhorn SL, Demars RJ(1963):

The D1 trisomy syndrome. J Pediatr 62: 326-341.

Smith DW, Clarren SK, Harvey MAS (1978): Hyperthermia as a

possible teratogenic agent. J Pediatr 878-883.

Sokal JE, Lessmann EM (1960): Effect of cancer Chemo-

therapeutic agents on human fetus. J A M A 172:1765.

South MA, Tomkins WAF, Moris CR, Rowls WE (1969):

Congenital malformations of the CNS associated with

genital type herpes virus. J Pediatr 75: 13.

Bibliography

Spranger J, Benirschke K , Jail JG (1982): Errors of morpho-

genesis, concepts and terms. J Pediatr 100 : 160-165.

Stevenson AC et al. (1992): Congenital malformations: a report

of series of consecutive births in 24 centers. Bull WHO

34: 1-127.

Stoll C, Roth M-P, Dott B, Bigel P (1986): Usefulness of a

registry of congenital malformations for genetic cou-

nseling and prenatal diagnosis.Clin Genet 29: 204-210.

Streissguth AP, Hanson JW (1977): The effects of moderate

alcohol consumption on fetal growth and morphogenesis

.Fifth International conference on birth defects

Amsterdam. Experta Medica.

Sugunabi NS, Mascarane M, Syamala K, Nair PM (1982):

An Etiological study of congenital malformation in

newborns. Indian Pediatr 19 : 1003-1007.

Swain S, Agarwal A, Bhatia BD (1994): Congenital

malformations at birth. Indian Pediatr 31:1187-1191.

Tassabehji M, Read AP, Newton (1992): Waardenburg's Syn-

drome patients have mutations in the human homologue

of the Pax 3 paired box gene. Nature 355: 635-636.

Taylor Al (1968): Autosomal trisomy syndromes: a detailed

study of 27 cases of Edwards Syndrome and 27 cases of

Patau's syndrome. J Med Genet 5: 227-252.

Bibliography

Temtamy SA, Abdul MN, Mazen I, Ismail SR, Kassem NS,

Bassiouni (1998): A genetic epidemiological study of

Congenital malformations at birth in Egypt. Egyp J

Pediatr 4 (2): 252-259.

Tennes K, Puck M, Byrant K, Frankenburg W, Robinson A

(1975): A developmental study of girls with trisomy X.

Am J Hum Genet 27: 71-80.

Thiersch JB (1952): Therapeutic abortions with a folic acid

Antagonist, 4-aminopteroylglutamic acid, administered

by oral route. Am J Obstet Gynecol 63: 1298.

Thomas C(1992): Major Congenital Malformations- A Clinical

And Incidence Study, M.D Thesis, Kuvempu University.

Thorburn MJ, Johnson BE (1966): Apparent monosomy of a

G autosome in a Jamaican infant. J Medl Genet 3: 290.

Thompson JS, Thompson MW (1992): " Genetics in medicine

4 th Edition, WB saunders company, Philadelphia

London.

Tibrewal NS, Pai PM (1974): Congenital malformations in

newborn period. Indian Pediatr 11: 403-407

Bibliography

Tolson CM, Seidler FJ, Mc Cook EC (1995): Does concurrent

or prior nicotine exposure interact with neonatal hypoxia

to produce cardiac cell damage. Teratology 52 : 298-305.

Tomkins D, Hunter A, Roberts M (1979): Cytogenetic abnor-

malities in Roberts —SC phocomelia syndrome (s). Am J

Med Genet 42: 332-335.

Tomkins DJ, Sisken JE (1984): Abnormalities in the cell

division in Roberts syndrome fibroblasts. A cellular basis

for characteristiscs? Am J Hum Genet 36: 1332-1340.

Turleau C, Grouchy J. de, Cornu A, Turquet M, Millet (1980):

Trisome 14 en Mosaique par isochromosome dicentique.

Ann Genet 23: 238-240.

Turner HH (1938): A syndrome of infantilism congenital

webbed neck and cubitus valgus. Endocrinology 23: 566-

574.

Uchida IA, Bowman JM, Wang HC (1962): The 18 Trisomy

syndrome New Engl J Med 266: 1198-1201.

Uchida IA, Summit RL (1979) : Chromosomes and their abno-

rmalities; In VC Vaughan, RJ Mc Kay and RD Behrman

(Ed): Netson Textbook of pediatrics. 11 th Eds.

Philadelphia WB Saunders Co pp 344-369.

Van Regemorter N, Dodion J, Druart C, Hayez F, Vamos E,

xxiv

Bibliography

Flament-Durand J, Perlmutter-cremer N and Rodesch F

(1984): Congenital malformations in 10,000 consecutive

births in a university hospital: Need for genetic

counseling and prenatal diagnosis. J Pediatr 104: 386-

390.

Vaughan VC, McKay RJ, Behrman RD (1979): Nelson textbook

of Pediatrics. 11 th ed. Philadelphia, WB Saunders Co.

Verma RS, Dosik H (1980): Incidence of major chromosomal

abnormalities in a referred population for suspected

chromosomal aberrations: A report of 357 cases Clin

Genet 17: 305-308.

Verma JC, Matthew AR (1983): Congenital malformations

in People of India: Some genetic Aspects, ED Satyavati

GV New Delhi, Indian Council of medical Research,

pp 70.

Verma M, Chhatwal J, Singh D (1991): Congenital malforma-

tions - A retrospective Study of 10,000 cases. Indian

Pediatr 28:245-25.

Warkany J, Beaudry PH, Hornstein S (1960): Attempted aborti-

on with 4-aminorpterolyglutamic acid : Malformations of

the child. Am J Dis Child 97: 274.

White LR, Server JL (1967) : Etiology agents, Infections

agents; In A Rubin (Ed): Handbook of Congenital

malformations. Philadelphia WB Saunder Co.

Bibliography

Wilson JG (1973) a: Present status of drugs as tetarogen in

man. Teratology 7: 3.

Wilson JG (1973) b: Mechanism of teratogenesis. Am J Anat

136: 129.

Winter RM, Ridler MAC, Mckeown JA (1980): A diagnostic

survey of infants referred for chromosome analysis in the

neonatal period. Med J [Clin Res] 281:1045-1047.

Witkop CJ, Wolf RO, Mehaffey MH (1965): The frequency of

discoloured teeth showing yellow fluorescence and UV

light . J Oral Therap Pharmacol 2: 81.

Young ID, Madders DJ (1987): Unknown syndrome: holoprose-

ncephaly, congenital heart defects and polydactyly.

J Med Genet 24:714-715.

Yu CW, Chen H, Baucum RW, Hand AM (1981): Terminal

deletions of the long arm of chromosomes4 Report of a

case of 46,XY,del(4)(q31) and a review of 4q syndrome.

Ann Genet (Paris) 24:156 161.

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