TERMINAL DELETION 6P23 - A CASE-REPORT

被引：25

作者：

KORMANNBORTOLOTTO, MH ^{[1
]}

FARAH, LMS ^{[1
]}

SOARES, D ^{[1
]}

CORBANI, M ^{[1
]}

MULLER, R ^{[1
]}

ADELL, ACA ^{[1
]}

机构：

[1] ESCOLA PAULISTA MED SCH,DEPT PEDIAT,DISCIPLINA PUERICULTURA & PEDIAT SOCIAL,BR-04023 SAO PAULO,BRAZIL

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 04期

关键词：

chromosome; 6; malformation syndrome; terminal deletion;

D O I：

10.1002/ajmg.1320370410

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter → p23:) chromosome constitution.

引用

页码：475 / 477

页数：3

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