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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 0Xq22.1 (Waters et al, 2001).
- Mickelson E C R, Robinson W P, Hrynchak M A, Lewis M E S.: Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24). AJMG 71:275-279, 1997. [PubMed: 9268095]46,XX,del(17)(q23.1q23.3)de novo but del(17)(q23.3q24.2)de novo is also possible.The 4.5 year old was being evaluated for global developmental delay.Aberration: Interstitial deletionChromosomal Aneuploidy: 17q-No band
- Olney P N, Kean L S, Graham D, Elsas L J, May K M.: Campomelic syndrome and deletion of SOX9. AJMG 84:20-24, 1999. [PubMed: 10213041]46,XX,del(17)(q23.3q24.3).Ultrasound examination showed skeletal anomalies, polyhydramnios. Severe tracheomalacia, small chest, and hypotonia contributed to respiratory distress and death after extubation on day 4.FISH studies with probes, ICRFc105F11143 and SOX9 gene, confirmed the deletion.Aberration: Interstitial deletionMIM#: 211970Chromosomal Aneuploidy: 17q-Index Terms: SOX9,Campomelic dysplasia syndrome
- Smith A, St. Heaps L, Robson L.: Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH. AJMG 113:346-350, 2002. [PubMed: 12457406]No. 1=46,XX,add(17)(q23.3)[15].The 1 month old patient did not have 22q deletion, but ? Pierre Robin sequence.
- 17q233 - Chromosomal Variation in Man17q233 - Chromosomal Variation in Man
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