A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant.

Abstract:

BACKGROUND:Non-acrocentric satellited chromosomes mostly result from familial balanced insertions or translocations with p12 or p13 of any acrocentric. Although all non-acrocentrics have been involved, only 12 instances of chromosome 6 involvement are known. CASE PRESENTATION:A female infant exhibited clinical features typical of 6qter deletions and also generalized hypertrichosis and synophrys, traits seldom reported in patients with similar imbalances or haploinsufficiency of ARID1B located in 6q25.3. She had a paternal derivative satellited 6q of a t(6;22)(q25.3;p12)pat entailing a 6q terminal deletion, karyotype 46,XX,der(6)t(6;22)(q25.3;p12)pat [16].ish del 6q subtel-. CONCLUSION:Male and female carriers of reciprocal translocations or insertions between chromosome 6 and the short arm of any acrocentric have few unbalanced offspring mostly by adjacent-1 segregation. In addition, spontaneous abortions or male infertility was present in 7/13 instances of satellited chromosome 6.

journal_name

J Clin Lab Anal

authors

Domínguez MG,Rivera H,Dávalos-Pulido RM,Dávalos-Rodríguez IP

doi

10.1002/jcla.23355

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

e23355

issue

8

eissn

0887-8013

issn

1098-2825

journal_volume

34

pub_type

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