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Partial trisomy 18 due to a maternal translocation t(9;18)

✍ Scribed by Luisa Torres; Angeles Sánchez Ferrer; J. A. Abrisqueta

Publisher: Springer
Year: 1984
Tongue: English
Weight: 31 KB
Volume: 68
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00418402

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✦ Synopsis

A 2-year-old male, birth weight 3,100g with malformations and severe mental retardation had the karyotype 46,XY,der ( 9), (9qter--+9p24::18q21-->18qter)mat. Clinical features were round face, low set ears, high hair implantation, short and round nose, retrognatia, bilateral cryptorchidism, severe psychomotor retardation, pieloureteral left stenosis with normal renal function. Fingernails were normal, and clinodactyly was not present. The mother was a carrier of the translocation 46,XX,t(9;18),t(9;18)(9qter--~9p24: :18q21---~18qter; 18pter --~18q21::gp24--~9pter). Further analysis of the family is planned. We would like to receive from or to send to colleges full information for eventual joint publication on similar cases.

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