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TRISOMY-18 SYNDROME DUE TO DE-NOVO TRANSLOCATION

✍ Scribed by HECHT, F


Book ID
122081384
Publisher
The Lancet
Year
1963
Tongue
English
Weight
164 KB
Volume
281
Category
Article
ISSN
0140-6736

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Partial trisomy 18 due to a maternal tra
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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 ps