PARENTAL ORIGIN OF CHROMOSOME-4P DELETION IN WOLF-HIRSCHHORN SYNDROME

被引：41

作者：

DALLAPICCOLA, B

MANDICH, P

BELLONE, E

SELICORNI, A

MOKIN, V

AJMAR, F

NOVELLI, G

机构：

[1] UNIV CATTOLICA SACRO CUORE, IST GENET MED, LARGO FRANCESCO VITO 1, I-00168 ROME, ITALY

[2] UNIV TOR VERGATA, CATTEDRA GENET UMANA, ROME, ITALY

[3] UNIV GENOA, IST BIOL & GENET, I-16126 GENOA, ITALY

[4] OSPED CSS, SAN GIOVANNI ROTONDO, ITALY

[5] UNIV TIRANA, DEPT PEDIAT, Tirana, ALBANIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 06期

关键词：

WOLF-HIRSCHHORN SYNDROME; 4P-DELETION; CHROMOSOME-4; PROBES; IMPRINTING; MEIOSIS;

D O I：

10.1002/ajmg.1320470622

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on molecular studies in 7 patients with Wolf-Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production. (C) 1993 Wiley-Liss, Inc.

引用

页码：921 / 924

页数：4

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