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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 02q320,13q110 (Aurias et al, 1978).
- Barbi G, Steinbach P, Vogel W: Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites. Hum. Genet. 68:290-294, 1984. [PubMed: 6239815]Aberration: Fragile sitesPositive band
- Same entry as in 02q310,04q220,08q220 (Boue and Gallano, 1984).
- Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]Case 1:46,XX,inv dup(16)(q24q23)enh(16)(q23q24,wcp16+)The patient was investigated for developmental delay and dysmorphic features.Aberration: DuplicationChromosomal Aneuploidy: 16q+Index Terms: CGH
- Daniel A, Ekblom L, Phillips S: Constitutive fragile sites 1p31, 3p14, 6q26, and 16q23 and their use as controls for false-negative results with the fragile (X). AJMG 18:483-491, 1984. [PubMed: 6476008]Aberration: Fragile sitesPositive band
- Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]Case IV-11 from Richkind K E (89017973).mos46,XX/46,XX,del(16)(q23)[59.1%] and in fetal tissue=[48%]Abnormal female abortus with cystic hygroma.Aberration: Terminal deletionChromosomal Aneuploidy: 16q-Positive band
- Shabtai F, Orlin J, Hart J, Halbrecht I, Klar D, Friedman J: "Different inducibility and possible significance of several concomitant ""fragile sites"" in two brothers." Hum. Genet. 74:85-89, 1986. [PubMed: 3019870]Aberration: Fragile sitesPositive band
- 16q230 - Chromosomal Variation in Man16q230 - Chromosomal Variation in Man
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