Partial trisomy 6p.

Abstract:

:A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomalies might have been due to partial 2p monosomy. Comparison with seven other cases of trisomy 6p allowed the delineation of a clinical entity. Direct proof of the localization of HLA genes was given by the presence of three haplotypes in the index patient.

journal_name

Hum Genet

journal_title

Human genetics

authors

Bernheim A,Berger R,Vaugier G,Thieffry JC,Matet Y

doi

10.1007/BF00273268

keywords:

subject

Has Abstract

pub_date

1979-04-17 00:00:00

pages

13-6

issue

1

eissn

0340-6717

issn

1432-1203

journal_volume

48

pub_type

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