PARTIAL DELETION OF CHROMOSOME 6P - AUTOPSY FINDINGS IN A PREMATURE-INFANT AND REVIEW OF THE LITERATURE

被引：10

作者：

ALASHARI, M ^{[1
]}

CHEN, E ^{[1
]}

POSKANZER, L ^{[1
]}

机构：

[1] CHILDRENS HOSP OAKLAND,DEPT MED GENET,OAKLAND,CA

来源：

PEDIATRIC PATHOLOGY & LABORATORY MEDICINE | 1995年 / 15卷 / 06期

关键词：

AUTOPSY; CHROMOSOME; 6; DELETION; 6P; MALFORMATION SYNDROME;

D O I：

10.3109/15513819509027030

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Autopsy findings for a premature infant with terminal deletion of Gp [46,XY, del(6)p23] are reported. The infant had multiple dysmorphic features, cleft lip and palate, abnormal external genitalia, diverticulum of right ventricle, and hydrocephalus with cerebellar hypoplasia, with absent corpus callosum and cerebellar vermis.

引用

页码：941 / 947

页数：7

共 19 条

[1]

BHARATI S, 1975, ARCH PATHOL, V99, P383

[2]

CHITAYAT D, 1987, American Journal of Medical Genetics, V26, P145, DOI 10.1002/ajmg.1320260122

[3]

CLEMENT E, 1989, 14TH ANN M ASS CYT T, P74

[4] 6P23 DELETION MOSAICISM IN A WOMAN WITH RECURRENT ABORTIONS AND IDIOPATHIC HYPOPROLACTINEMIA [J].

DALESSANDRO, E ;

SANTIEMMA, V ;

LORE, ML ;

LIGAS, C ;

DELPORTO, G .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02) :220-222

[5]

Donnai D, 1992, Clin Dysmorphol, V1, P89

[6] MAPPING OF PROLACTIN AND TUMOR NECROSIS FACTOR-BETA GENES ON HUMAN CHROMOSOME-6P USING LYMPHOBLASTOID CELL DELETION MUTANTS [J].

EVANS, AM ;

PETERSEN, JW ;

SEKHON, GS ;

DEMARS, R .

SOMATIC CELL AND MOLECULAR GENETICS, 1989, 15 (03) :203-213

[7] GENITOURINARY MALFORMATIONS ASSOCIATED WITH AGENESIS OF THE CORPUS-CALLOSUM [J].

FRANCO, I ;

KOGAN, S ;

FISHER, J ;

RIFKINSONMANN, S ;

REDA, E ;

LEVITT, S ;

ROSEMAN, B .

JOURNAL OF UROLOGY, 1993, 149 (05) :1119-1121

[8]

JALAL SM, 1989, CLIN GENET, V36, P196

[9]

KELLY PC, 1989, CLIN GENET, V36, P204

[10]

KORMANNBORTOLOT.MH, 1990, AM J MED GENET, V37, P475

← 1 2 →