FAMILIAL HOLOPROSENCEPHALY ASSOCIATED WITH A TRANSLOCATION BREAKPOINT AT CHROMOSOMAL POSITION 7Q36

被引：32

作者：

HATZIIOANNOU, AG

KRAUSS, CM

LEWIS, MB

HALAZONETIS, TD

机构：

[1] TUFTS UNIV, SCH DENT MED, DEPT PEDIAT DENT, MEDFORD, MA 02155 USA

[2] BRIGHAM & WOMENS HOSP, DEPT OBSTET & GYNECOL, BOSTON, MA 02115 USA

[3] NEW ENGLAND MED CTR HOSP, DEPT PLAST SURG, BOSTON, MA 02111 USA

[4] HARVARD UNIV, COMMUNITY HLTH PLAN, DEPT MED GENET, CAMBRIDGE, MA 02138 USA

[5] NEW ENGLAND MED CTR HOSP, COMMUNITY HLTH PLAN, DEPT GENET, BOSTON, MA 02111 USA

[6] HARVARD UNIV, SCH MED, BOSTON, MA 02115 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 02期

关键词：

HOLOPROSENCEPHALY; MEDIAN CLEFT LIP; BALANCED TRANSLOCATION; DUP(9) (Q3); DEL(7)(Q3);

D O I：

10.1002/ajmg.1320400216

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A familial balanced t(7;9) (q36;q34) was reported recently. Analysis of the craniofacial features of 3 of the sibs showed signs of holoprosencephaly. Two of the sibs have an unbalanced derivative chromosome leading to del(7) (q36) and dup(9) (q34), while the other has a cytogenetically balanced translocation. These findings, together with several reports associating holoprosencephaly with terminal 7q deletions, indicate that a putative locus for holoprosencephaly resides at or near 7q36. It should now be feasible to clone this locus.

引用

页码：201 / 205

页数：5

共 34 条

[1]

ARDINGER HH, 1988, J CRAN GENET DEV BIO, V8, P53

[2]

BARTHOLOMEW DW, 1987, CLIN GENET, V31, P370

[3]

BENHUR N, 1978, CLEFT PALATE J, V15, P365

[4] SINGLE CENTRAL INCISOR IN FAMILIAL HOLOPROSENCEPHALY [J].

BERRY, SA ;

PIERPONT, ME ;

GORLIN, RJ .

JOURNAL OF PEDIATRICS, 1984, 104 (06) :877-880

[5] TERMINAL DELETIONS OF THE LONG ARM OF CHROMOSOME-7 - 5 NEW CASES [J].

BOGART, MH ;

CUNNIFF, C ;

BRADSHAW, C ;

JONES, KL ;

JONES, OW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 36 (01) :53-55

[6]

BOROVIK CL, 1987, REV BRAS GENET, V10, P269

[7]

Broadbent B. H. S., 1975, BOLTON STANDARDS DEN

[8]

BURRIG KF, 1989, CLIN GENET, V36, P262

[9] PERSPECTIVES ON HOLOPROSENCEPHALY .1. EPIDEMIOLOGY, GENETICS, AND SYNDROMOLOGY [J].

COHEN, MM .

TERATOLOGY, 1989, 40 (03) :211-235

[10] PERSPECTIVES ON HOLOPROSENCEPHALY .3. SPECTRA, DISTINCTIONS, CONTINUITIES, AND DISCONTINUITIES [J].

COHEN, MM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (02) :271-288

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