Proceedings of the Japan Academy, Series B
Online ISSN : 1349-2896
Print ISSN : 0386-2208
ISSN-L : 0386-2208
A Case of Partial 3p Trisomy [46, XY, -18, +der(18), t(3;18) (p24;q22)]
Ryuichi TSUKINOHiromitsu OMORIShigeru UEMURAAkihiko KODAMAMichio KOIKE
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1981 Volume 57 Issue 3 Pages 89-94

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Abstract

Cytogenetic analysis of a one-month-old Japanese boy with cretinism-like features was carried out. His chromosome constitution was determined as 46, XY, -18, +der (18), t(3;18) (p24; q22) mat. A family study revealed that balanced translocation carriers were his mother and maternal grandmother. The propositus had characteristic features of 3p trisomy such as square facies, temporal indentation, strabimus, depressed nasal bridge, prominent middle upper lip, carp mouth, micro- and retrognathia, short neck and hypoplastic penis.

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