SPLIT HAND SPLIT FOOT ANOMALY IN A FAMILY SEGREGATING A BALANCED TRANSLOCATION WITH BREAKPOINT ON 7Q22.1

被引：53

作者：

GENUARDI, M

POMPONI, MG

SAMMITO, V

BELLUSSI, A

ZOLLINO, M

NERI, G

机构：

[1] UNIV CATTOLICA SACRO CUORE, FAC MED & CHIRURG A GEMELLI, IST GENET MED, LARGO F VITO 1, I-00168 ROME, ITALY

[2] OSPED S CAMILLO ROMA, SERV RADIOL, ROME, ITALY

来源：

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

关键词：

SPLIT HAND FOOT; ECTRODACTYLY; CHROMOSOME-7; TRANSLOCATION; EPISTASIS; VARIABLE EXPRESSIVITY;

D O I：

10.1002/ajmg.1320470606

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An apparently balanced translocation, t(2;7)(q21.1;q22.1) was detected in a female patient with bilateral split hand and right split foot. Split hand/split foot (SHSF) segregated as an autosomal dominant character with low penetrance in her family. The translocation was present in 6 of 13 additional relatives investigated, one of whom also had split hand on right. This observation provides further confirmation of the presence of a locus for SHSF on 7q and narrows the critical region to band 7q22.1. Defects caused by alterations of this chromosome region are variable and include manifestations of both syndromal and non-syndromal SHSF. Review of SHSF cases associated with chromosome 7 abnormalities showed a preferential involvement of the lower limbs and of the right side, suggesting the action of locally restricted developmental resistance mechanisms. (C) 1993 Wiley-Liss, Inc.

引用

页码：823 / 831

页数：9

共 38 条

[11] INTERSTITIAL DELETION OF LONG ARM OF CHROMOSOME 746,XX,DEL(7)(PTER-]Q2200-Q3200-]QTER)
FRANCESCHINI, P
SILENGO, MC
DAVI, GF
SANTORO, MA
PRANDI, G
FABRIS, C
[J]. HUMAN GENETICS, 1978, 44 (03) : 345 - 348
[12] FRASER GR, 1976, CAUSES PROFOUND DEAF, P70
[13] FREIREMA.N, 1967, ACTA GENET STAT MED, V17, P418
[14] GIBSON J, 1982, CLIN GENET, V22, P256
[15] HASEGAWA T, 1991, CLIN GENET, V40, P202
[16] HIGGINSON G, 1976, CLIN GENET, V10, P307
[17] AUTOSOMAL DOMINANT ECTRODACTYLY AND ABSENCE OF LONG BONES OF UPPER OR LOWER-LIMBS - FURTHER CLINICAL DELINEATION
HOYME, HE
JONES, KL
NYHAN, WL
PAULI, RM
ROBINOW, M
[J]. JOURNAL OF PEDIATRICS, 1987, 111 (04) : 538 - 543
[18] HULL DR, 1979, AM J HUM GENET, V31, pA97
[19] JOHNSON WE, 1978, AM J HUM GENET, V30, pA84
[20] KAUFMAN R L, 1972, Birth Defects Original Article Series, V8, P88

← 1 2 3 4 →