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A new case of partial trisomy 15q-

✍ Scribed by A. Geneix; J. Y. Jaffray; P. Malet; E. Foulon; P. Jalbert; P. Crost


Publisher
Springer
Year
1979
Tongue
English
Weight
264 KB
Volume
51
Category
Article
ISSN
0340-6717

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✦ Synopsis


Partial trisomy 15 was observed in a newborn with malformations of the head and extremities. A t(5;15) translocation was found in the mother and maternal grandfather.


πŸ“œ SIMILAR VOLUMES


Partial trisomy 15q1
✍ R. A. Pfeiffer; E. Kessel πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 438 KB

A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial tris

Partial trisomy 9q: A new syndrome
✍ Catherine Turleau; J. Grouchy; FranΓ§oise Chavin-Colin; Michelle Roubin; P. E. Br πŸ“‚ Article πŸ“… 1975 πŸ› Springer 🌐 English βš– 535 KB

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q.

Prenatal diagnosis of Partial Trisomy 2q
✍ Ana Matos; Ana Nogueira; BegoΓ±a Criado; SalomΓ© Pereira; SΓ©rgio Castedo; Nuno Mon πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 94 KB πŸ‘ 2 views

A case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above. 1997 by

Partial trisomy 4q in two unrelated case
✍ Milly Andrle; A. Erlach; A. Rett πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 302 KB

Two unrelated cases of 4q trisomy are described with trisomic segment 4q25 leads to 4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously report

Partial trisomy 4q syndrome: Case report
✍ Jaroslav Cervenka; Gholam Reza Djavadi; Robert J. Gorlin πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 901 KB

This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination