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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- Henegariu O, Heerema N A, Vance G H.: Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3). AJMG 68:450-454, 1997. [PubMed: 9021020]Proposita R.P. (Fam 30054):46,XX,dir dup(6)(q23.3q25.3)(wcp6+)The infant had MCA including IUGR, dolichocephaly, depressed nasal bridge, almond-shaped plapebral fissures, short neck, flexion-contractures of the wrists, and mild generalized hypertonia.Aberration: DuplicationChromosomal Aneuploidy: 6q+Negative band
- Kumar A, Cassidy S B, Romero L, Schwartz S.: Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. AJMG 86:227-231, 1999. [PubMed: 10482870]M.M. was 3 years old and was evaluated as a newborn because of small size. She was delivered 10 days prior to EDC because of oligohydramnios.46,XX,del(6)(q23.3q24.2)de novoThe deletion was paternal in origin, was between markers WI-5023 and D6S1042, and was approximately 4-5 Mb in size.Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-
- Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]46,XX,del(6)(q23.3q25.1).Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-Index Terms: High resolution G-bandingNegative band
- Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N: The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum. Genet. 92:1-5, 1993. [PubMed: 8365720]Patient 4:46,XX,dir dup(6)(q23.3 -> q25.3)de novo.Chromosomal Aneuploidy: 6q+Index Terms: Chromosome-band paintingNegative band
- Seel C, Hager H-D, Jauch A, Tariverdian G, Zschocke J.: Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature. Clin. Dysmorphol. 14:51-54, 2005. [PubMed: 15602097]46,XY,der(17)t(6;17)(q23.2;q25.3)pat.The patient died suddenly at the age of 10 y and 8 mo. Renal failure was noted earlier, was unable to walk independently.FISH analysis showed that the 17q deletion was between 500 kb and 2 Mb.Aberration: Reciprocal translocationChromosomal Aneuploidy: 6q+;17q-.
- Uhrich S, FitzSimmons J, Easterling T R, Mack L, Disteche C M: Duplication (6q) syndrome diagnosed in utero. AJMG 41:282-283, 1991. [PubMed: 1789280]46,XX,-15,+der(15)t(6;15)(q23.3;q26.3)mat.&"46,XX,t(6;15)(q23.3;q26.3)mat."Ultrasonography at 35 weeks demonstrated a hydropic fetus with microcephaly. Additional anomalies noted were ASD, an accessory spleen, cleft palate, and a dilated colon.Recurrent pregnancy loss was noted in the grandmother''s brother''s family.Aberration: Simple translocationChromosomal Aneuploidy: 6q+Index Terms: ASD,Spleen ... accessoryNegative band
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