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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Same entry as in 07q11.23 (Portera et al, 2005).
- Brisset S, Kasakyan S, L''Hermine A C, Mairovitz V, Gautier E, Aubry M-C, Benkhalifa M, Tachdjian G. : De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenat. Diag. DOI=10.1002/pd.1379; 26:206-213, 2006. [PubMed: 16450348]46,XX,add(9)(p24.3).ish 46,XX,der(9)t(9;17)(p24.3;q24.3)de novoA 29 year-old woman had amniocentesis, at 13 weeks because of increased NT (4.4) mm) detected at 12 weeks of gestation. Pregnancy terminated at 22 weeks.Aberration: Simple translocationChromosomal Aneuploidy: 9p-;17q+
- Repetto G M, Wagstaff J, Korf B R, Knoll J H M.: Complex familial rearrangement of chromosome 9p24.3 detected by FISH. AJMG 76:306-309, 1998. [PubMed: 9545094]46,XY,add(9)(p24).ish del(9)(D9S1858-)The infant had minor facial anomalies, pyloric stenosis, telecanthus and prominent ear lobes. The phenotypically normal mother also had the abnormal chromosme 9.No deletion was found at D9S1813 or D9S54.Aberration: ID,DUChromosomal Aneuploidy: 9p-
- Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:286-294, 2001. [PubMed: 11702209]Case 3=46,XX,dup(9)(p24.3)de novo.Aberration: DuplicationChromosomal Aneuploidy: 9p+
- Zabel B, Baumann W A: Partial trisomy 12q. J. Med. Genet. 18:144-146, 1981. [PMC free article: PMC1048689] [PubMed: 7241532]46,XX,t(9;12)(p243;q243).&"46,XX,der(9)der(12)t(9;12)(p243;q243)mat."&"46,XY,-9+der(9)t(9;12)(9qter -> 9p243::12q243 -> 12qter)mat."&There were 2 miscarriages and one normal child in the family. The patient died after 2 1/2 months. Clinical features were brachycephaly with flattened occiput and peculiar facial features including a small broad-bridged nose with a downturned tip, hypertelorism, wide mouth with downturned corners and thin lips, slight micrognathia, high arched palate, and low set malformed ears.Aberration: Simple translocationIndex Terms: Brachycephaly,Ears ... low-set malformed,Face ... anomalies,Hypertelorism,Lips ... thin,Micrognathia,Mouth ... downturned corners,Mouth ... wide,Occiput ... flat,Palate ... high archedNegative band
- Zhang Z-F, Ruivenkamp C, Staaf J, Zhu H, Barbaro M, Petillo D, Khoo S K, Borg A, Fan Y-S, Schoumans J.: Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. Europ. J. Hum. Genet. 16: 786-792, 2008. [PubMed: 18285835]dup(9)(p24.3)Aberration: DuplicationChromosomal Aneuploidy: 9p+
- 09p243 - Chromosomal Variation in Man09p243 - Chromosomal Variation in Man
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