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

Autor:	L G, Leichtman, J L, Zackowski, P D, Storto, A, Newlin
Rok vydání:	1996
Předmět:	Adult Chromosome Aberrations Heart Defects Congenital Male Foot Deformities Congenital Mosaicism Infant Newborn Ear Trisomy Aneuploidy Isochromosomes Pregnancy Face Humans Abnormalities Multiple Female Chromosomes Human Pair 9 Hand Deformities Congenital Head
Zdroj:	American journal of medical genetics. 63(3)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::9c42cd8005ee27dfd3908652900cceef https://pubmed.ncbi.nlm.nih.gov/8737648 Zobrazit plný text záznamu Plný text