Case reportThe patient (Fig. 1) was referred to us when she was 8

years old with a diagnosis of Tumer's syndrome. Shewas born after an uneventful pregnancy and normal de-livery, when her parents were 25 years old. No dataconcerning weight and length at birth are available. Theparents did not notice that the child was abnormal andwere not informed of the presence of abnormalities. Thepatient has been healthy. Her parents are alive andhealthy; she has a younger normal brother. The familyhistory is negative for the existence of congenital ano-malies, mental retardation, abortions, or errors in sexualdevelopment.

Physical examination. Stature 112 cm, span 110cm, cephalic circumference 52 cm, weight 17 kg. Thepatient is normocephalic, the nuchal hairline is very low.Her ears are low-set, and her face mildly asymmetric.Epicanthic folds are present bilaterally. The neck ismarkedly webbed. The thorax has normal configura-tion, with widely separated nipples. A systolic mur-mur is heard on mesocardial area. The hands are short.The external genitalia are normal. Psychoneurologicalevaluation shows no gross deviation from normalcy.Clinical examination strongly suggests a diagnosis ofTurner's syndrome.

Dermatoglyphics. Dermatoglyphics are summar-ized in Table I and are in good agreement with a diag-nosis of Tumer's syndrome.

TABLE IDERMATOGLYPHICS

Turner's syndrome and46,X,i(Yq) karyotype

Summary. A patient with featuresof Turner's syndrome is reported. Inher karyotype there were 46 chromosomesincluding 15 chromosomes in the C groupand one metacentric marker the size of aNo. 16. This marker was identifiedthrough its fluorescence pattern as beingan isochromosome for the long arm oftheY. This observation strongly suggeststhat the male determining factors aresituated on the short arm of the Y chro-mosome.

FIG. 1. The proposita at 8 years of age.

Received 14 May 1974.

Cytogenetic studiesNo Barr bodies were observed in 500 nuclei from

Feulgen-stained buccal smears. Chromosomal ana-lysis was performed on peripheral blood leucocytescultured by a modified Moorhead method. Thefluorescence banding studies were performed ac-cording to the method described by Caspersson,Lomakka, and Zech (1971). All 32 cells analysedunder conventional microscopy showed a 46 chro-mosome karyotype including 15 apparently normalchromosomes in the C group and one metacentricmarker the size of a chromosome 16 (Fig. 2). Thischromosome was always distinguishable from themembers of the E group for being perfectly meta-centric and the ends of both arms showing a fuzzy

Case reports 403

copyright. on January 17, 2020 by guest. P

rotected byhttp://jm

g.bmj.com

/J M

ed Genet: first published as 10.1136/jm

g.11.4.403 on 1 Decem

ber 1974. Dow

nloaded from

Case reports

.A

..X.

t :A ....

:X. ., .^@

.. 2 -6

i. .'.S. v -S b._. S '''MN.iy t

... S.,.X.. ;. .-;.r .R ........ fi.e.,6; a Se *_ ''iGS:::. . t -'?e .. f:cw :' _:

W$ b tf,>>;,.:Ct .. ,..

.< Pi g.... >::+ ..v>.Y :2! ;:

FIG. 2. The perfectly metacentric marker i(Yq) (arrow).

appearance. These features strongly suggestedthat it was an isochromosome for the long arm of theY, rather than a deleted X. This interpretationwould explain why the patient had no Barr bodies,when one should expect a deleted X of this size to beable to form sex chromatin. In all 18 cells studiedunder UV microscopy a fluorescence spot similarto the typical one on the long arm of the Y chromo-some was observed on each arm of the marker chro-mosome (Fig. 3). This shows that the marker is anisochromosome for the long arm of the Y. Thefather of the patient has a normal karyotype.

DiscussionOnly four female patients presenting duplication

of the long arm and deletion of the short arm ofthe Y have been described. Together with thepresent report these cases allow a discussion on thelocation on the Y chromosome of (1) the male deter-mining factors and (2) the presumptive loci prevent-ing the manifestation of the somatic features ofTurner's syndrome.Our case suggests that factors determining male

differentiation are located on the short arm of theY chromosome, since the patient presents femalephenotype associated with double doses of the longarm of the Y and absence of its short arm. Thishypothesis was advanced by Jacobs and Ross (1966)who detected a presumptive 46,X,i(Yq) karyotypein two females with primary amenorrhoea and sexualinfantilism, but no evidence of virilization; in one ofthese patients a laparotomy showed streak gonads.Recently their cytogenetic interpretation was con-firmed by fluorescence studies (Robinson and Buck-ton, 1971).Armendares et al (1972) found epididymal struc-

tures in a patient with features of Turner's syndromeand a 46,X,dic(Yq) karyotype. This could be ex-plained by the presence of a segment of the shortarm of the Y. Ferguson-Smith et al (1969) re-ported the presence of rudimentary epididymis in awoman with a 45,X/46,X,i(Yq) karyotype and sug-gested that factors on both arms of the Y play a partin male determination. However, this interpre-tation is not the only one possible. Since thepatient is a mosaic, it is conceivable that from a

404

..:.. ',K:

---p1. q::..14.. ...e..,

C.. ,...

'.VA

........Xv ....

8!M

copyright. on January 17, 2020 by guest. P

rotected byhttp://jm

g.bmj.com

/J M

ed Genet: first published as 10.1136/jm

g.11.4.403 on 1 Decem

ber 1974. Dow

nloaded from

Case reports

FIG. 3. Yq fluorescence pattern on both arms of the metacentric marker (arrow).

46,XY zygote a transversal fission of the Y centro-mere produced in a first step a 46,X,i(Yp)/46,X,i(Yq) mosaic and that the cell line with the i(Yp) hadpersisted during development long enough to slight-ly influence the gonads. In the present case thefamily did not give permission for a laparotomy andnothing can be said about gonadal development.We may conclude that up to now the evidence is

compatible with the location of the bulk of viriliza-tion factors on the short arm of the Y and the ab-sence from its long arm of any virilization factor ofimportance.

Since their patients did not show the somatic ab-normalities typical of Turner's syndrome, Jacobsand Ross (1966) suggested that genes preventingthese features occur on the long arm of the Y, anassumption implying homology between some locion the X and on the long arm of the Y. However,

the phenotypic characteristics of the present caseand that described by Armendares et al (1972) do notsupport this hypothesis, since the patients are of lowstature, have shortness and webbing of the neck, andlow nuchal hairline. An undetected 45,X cell linecould be present both in our patient and in that ofArmendares et al (1972). On the other hand, thegenes preventing features of Turner's syndromecould be located near the centromere, in the longarm or in the short arm in different patients. It isindeed conceivable that the Y is in a polymorphicstate in the normal population with respect to smallpericentric inversions, which must not cause meio-tic disturbance since X and Y pair end-to-end.

This work was partly supported by the MultinationalGenetics Program of the Organization of the AmericanStates, the Conselho Nacional de Pesquisas (CNPq) and

405

copyright. on January 17, 2020 by guest. P

rotected byhttp://jm

g.bmj.com

/J M

ed Genet: first published as 10.1136/jm

g.11.4.403 on 1 Decem

ber 1974. Dow

nloaded from

the Fundagao de Amparo a Pesquisa do Estado de SaoPaulo (FAPESP).

NORMA C. MAGNELLI,* ANGELA M. VIANNA-MORGANTE,t 0. FROTA-PESSOA,t and MANUEL

GONZALO TABOADA-LOPEZt

REFENCESArmendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J.M. (1972). A dicentric Y chromosome without evidence of sexchromosomal mosaicism, 46,XYqdic, in a patient with features ofTurner's syndrome. Journal of Medical Genetics, 9, 96-100.

Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluores-

cence patterns of the human metaphase chromosomes-distin-guishing characters and variability. Hereditas Genetiskt Arkiv, 67,89-102.

Ferguson-Smith, M. A., Boyd, E., Ferguson-Smith, M. E., Prit-chard, J. G., Yusuf, A. F. M., and Gray, B. (1969). Isochromo-some for the long arm of Y chromosome in patient with Turner'ssyndrome and sex chromosome mosaicism (45,X/46,XYqi).J'ournal of Medical Genetics, 6, 422-425.

Jacobs, P. A. and Ross, A. (1966). Structural abnormalities of theY chromosome in man. Nature, 210, 352-354.

Robinson, J. A. and Buckton, K. E. (1971). Quinacrine fluorescenceof variant and abnormal human Y chromosomes. Chromosoma35, 342-352.

* Clinica Medica II, Facultad de Medicina, Mendoza, Argentina.t Laborat6rio de Genetica Humana, Departamento de Biologia,Instituto de Biociencias, Universidade de Sao Paulo, Brasil.

Chromosomal abnormalityassociated with congenitalmacroglossia and other

abnormalitiesCongenital macroglossia is a rare clinical abnor-

mality, and when found in an infant with a chromo-somal abnormality, it could be a useful chromosomalmarker. It is for this reason that we would like topresent the following clinical and chromosomalfindings.

Case reportThe patient is a 5-week-old white female who was born

to a gravida II, para I mother after an uncomplicated,full-term pregnancy with no history of infection or anymedications during pregnancy. Amniocentesis wasperformed twice during the pregnancy because of a pos-sible Rh blood incompatibility factor. At birth thechild had microcephaly, macroglossia, and a heartmurmur; she weighed 3500 g at birth. Since birth, shehas had breathing and feeding difficulties because of herenlarged tongue.The 21-year-old father and the 20-year-old mother are

in good health. One sib, aged 1 year, is normal. Thereis no history of congenital anomalies in the family ofeither parent.On physical examination, the infant had difficulty

breathing but no cyanosis. The infant's tongue waspartially protruding (Fig. 1). Her height was 56 cm(75th centile), weight 4190 g (10th centile), head cir-cumference 36 cm (10th centile), heart rate was 140/min,

and respiratory rate was 36/min. There was markedmicrocephaly with 2-3 mm opening of the anterior andposterior fontanelle. The tongue was diffusely en-larged filling the entire mouth cavity and remainingpartially protruding at all times. There was no evidenceof a hemangioma or cyst of the tongue. There was acleft uvula. She had a precordial thrill and a grade 4/6holosystolic murmur at left lower sternal border. The

FIG. 1. The proposita; note macroglossia and microcephaly.

406 Case reports

Received 13 November 1973.

copyright. on January 17, 2020 by guest. P

rotected byhttp://jm

g.bmj.com

/J M

ed Genet: first published as 10.1136/jm

g.11.4.403 on 1 Decem

ber 1974. Dow

nloaded from