一名患有多种先天性异常的活产婴儿中的非嵌合性9号染色体短臂四体：病例报告及与9号染色体短臂三体的比较

Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p.

作者信息

Leichtman L G, Zackowski J L, Storto P D, Newlin A

机构信息

Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23507-1971, USA.

出版信息

Am J Med Genet. 1996 Jun 14;63(3):434-7. doi: 10.1002/(SICI)1096-8628(19960614)63:3<434::AID-AJMG4>3.0.CO;2-R.

DOI:10.1002/(SICI)1096-8628(19960614)63:3<434::AID-AJMG4>3.0.CO;2-R

PMID:8737648

Abstract

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnormalities, multiple limb defects, hypotonia, and early death.

摘要

9号染色体短（p）臂四体性仅在少数病例中被报道。这些儿童大多表现为小头短头畸形、前额宽阔、眼距过宽、耳朵低位且畸形、鹰钩鼻和小颌畸形。其他异常包括短颈、先天性心脏病、生殖器异常、多处肢体缺陷、肌张力减退和早夭。