I Med Genet 1991; 28: 539-540

De novo interstitial deletion oflp (pter--p34.1::p32.3 >qter)

Makoto Yoshino, Yoriko Watanabe, Naoki Harada, Kyoko Abe

AbstractWe report a case of a 9 month old girl with a denovo interstitial deletion of lp, karyotype 46,XX,del(lXpter-*p34.1::p32.3-*qter). She had dysmor-phic features including upward slanting palpebralfissures, a bulbous nose, a long philtrum, low setand malformed ears, a short neck, hypoplastic nailson both index fingers, widened interdigital spacesbetween the toes, dilated lateral ventricles, righthydronephrosis, a dilated right ureter, mental andmotor developmental delay, and generalised hypo-tonia.

Chromosome abnormalities involving lp are rare. Inparticular, partial monosomy for lp, not associatedwith a translocation or ring chromosome, has beendescribed to date in only eight patients. 1-8 We reporta case of a girl with multiple anomalies and aninterstitial deletion of lp, which is the smallest ofthese deletions reported so far.

Case reportThe patient, a 9 month old female infant, was born toa 21 year old mother and 31 year old father after anuneventful 40 week pregnancy with a birth weight of3110 g.When she was first seen by us at the age of 27 days,

she showed the following abnormalities: prolongedjaundice, two strawberry haemangiomas on theparietal area of the scalp, a flat occiput, mildly dilated

Department of Pediatrics and Child Health, KurumeUniversity School of Medicine, Asahi-machi 67, Kurume830, Japan.M Yoshino, Y Watanabe

Department of Human Genetics, Nagasaki UniversitySchool of Medicine, Nagasaki 852, Japan.N Harada, K Abe

Cytogenetics Research Department, Kyushu MedicalScience Nagasaki Laboratory, Nagasaki 852, Japan.N Harada, K AbeCorrespondence to Dr Yoshino.

lateral ventricles and low density areas in the whitematter shown by computed tomography, protuberantorbital areas with epicanthus, short and upwardslanting palpebral fissures, a bulbous nose withanteverted nostrils, a long philtrum, a beaked upperlip, a high arched and narrow palate, low set,malformed, and prominent ears, a short neck, widelyspaced nipples, hypoplastic nails on both indexfingers, long halluces, wide interdigital spaces betweenthe first and second and the fourth and fifth toes,

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13 1"\ 131212 \ 121 31 131

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322- 32-2-32 3-[ 32 3-41 41421st_ 42-142-2-L 42-242-3 _ 42-343 4344 44

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High resolution GTG banded chromosome 1. Black arrows showbreakpoints and white arrow shows a rejoining point.

539

Received for publication 6 December 1990.Accepted for publication 31 December 1990.

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Yoshino, Watanabe, Harada, Abe

Selected clinical features observed in patients with del(l)(p32.3- pter).

Deleted segments

Genicik and Gencikova'0 Howard and Porteus' Present patientClinical features (pter-*p33) (p36. 1--p34. 1) (p34. 1-*p32.3)

Flat occiput + +Low set ears + + +Accessory ears +Slanting palpebral fissures + +Small eyes + +Bulbous nose/wide nasal alae + +High arched palate + +Short neck + + +Hypertrichosis +Cryptorchidism + + FemaleCardiac defectsDevelopmental retardation + + +

right hydronephrosis, and a dilated right ureter. Herdevelopmental milestones were generally delayed; shehad gained head control by 4 months, but could notroll over, sit, or stand until 11 months, and started towalk at the age of 22 months.

Cytogenetic findings and discussionCytogenetic analysis with high resolution GTGbanding showed the karyotype 46,XX,del(l)(pter-.q34.1::p32.3-*qter) de novo (figure), and AluIbanding9 indicated that the origin of the de novodeletion was paternal.One atient has been reported with intestitial

deletion and another with terminal deletion'0 of lpwhose deleted segments showed partial overlap withthe deleted region in our patient. The present patientshared some clinical features with these two reportedpatients, including a flat occiput, low set ears, upwardslanting palpebral fissures, short neck and develop-mental delay (table). At least seven other patientswith interstitial deletion2 3 5 7or terminal deletion' 4 6

of this chromosome have been reported to date.However, the deleted region in our patient did notshow any overlap with the deleted bands of any ofthese patients.The size of the deletion in our patient was the

smallest of the eight reported deletions of lp. Thesmall number of reported cases of lp deletion may

suggest the existence of genes essential for life beinglocated on this chromosome.An EB virus transformed lymphoblastoid cell line

from this patient is available at the Department ofHuman Genetics, Nagasaki University School ofMedicine (No NG-865).

We thank Drs Shigeru Karukayaand Fumio Yamashita(Department of Pediatrics and Child Health, KurumeUniversity) and Dr Norio Niikawa (Department ofHuman Genetics, Nagasaki University) for theirencouragement.

1 Aarskog D. A large deletion of chromosome No I (46,XY, 1?-).J Med Genet 1968;5:322-5.

2 Bene M, Duca-Marinescu D, loan D, Maximilian C. De novointerstitial deletion del(lXp2lp32).J Med Genet 1979;16:323-7.

3 Ikeuchi T, Tonomura A, Nakajima H, Kawasaki C, Nemoto H.A simple high resolution chromosome banding technique andits application to regional mapping of PGM1 by exclusion onchromosome lp. Cytogenet Cell Genet 1982;32:287.

4 Palova A, Halasova E, Kamenicka E, Kadasi L. De novo deletionlp(34-.pter). Hum Genet 1985;69:94.

5 Petersen MB, Warburg M. Interstitial deletion lp in a 30 year oldwoman. J Med Genet 1987;24:229-31.

6 Wenger SL, Steele MW, Becker DJ. Clinical consequences ofdeletion lp35. J Med Genet 1988;25:263.

7 Tabata H, Sone K, Kobayashi T, et al. Short arm deletion ofchromosome 1: del(lXpl3.3p22.3) in a female infant with anextreme tetralogy of Fallot. JJ pn Pediatr Soc 1990;94:994-8.

8 Howard PJ, Porteus M. Deletion of chromosome lp: a shortreview. Clin Genet 1990;37:127-31.

9 Babu A, Agarwal AK, Verma RS. A new approach in recognitionof heterochromatic regions of human chromosomes by means ofrestriction endonucleases. AmJ Hum Genet 1988;42:60-5.

10 Geficik A, GeAicikova A. Partial lp monosomy in a physically andmentally retarded boy. J Genet Hum 1987;35:309-15.

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