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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- Al-Attia H M, Sedaghatian M R.: Mental retardation/shortness of stature/multiple minor anomalies syndrome associated with insertion of 3q material into 18p. AJMG 56:35-38, 1995. [PubMed: 7747783]46,XX,dir ins(18;3)(p11.1;q13.2->q25).The patient, a 16-year-old Arab girl, has obesity, cubitus valgus, downturned angles of mouth, short neck, broad nose, depressed nasal bridge, pointed chin and strabismus on upward gaze.Aberration: Direct insertion between two chromosomesNegative band
- Casamassima A C, Wilmot P L, Vibert B K, Shapiro L R: Kallmann syndrome associated with complex chromosome rearrangement. AJMG 45:539-541, 1993. [PubMed: 8456820]46,XY,t(3;9)(9;12)(q13.2;q21.2p13;q15).The 19 year old was evaluated for hypogonadism.Aberration: Complex translocationMIM#: 147950Index Terms: Kallmann syndrome
- Farrell S A: Balanced reciprocal translocation mosaicism: new cases and a literature review. AJMG 40:345-347, 1991. [PubMed: 1951443]Case 1.mos46,XY,t(3;6)(q13.2;q25.3)10% ie 4/45 cells- blood.Couple was investigated for infertilty. Their only pregnancy was a miscarriage at 12 weeks.Aberration: Reciprocal translocationNegative band
- Gabriel-Robez O, Rumpler Y, and 20 other authors: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness.I: inversions and insertions. A European collaborative study. Ann. Genet. 37:3-10, 1994. [PubMed: 8010710]
Goldman A S H, Martin R H, Johannisson R, Gould C P, Davison E V, Emslie J E, Burn J, Hulten M A: "Meiotic and sperm chromosome analysis in a male carrier of an inverted insertion (3;10)(q13.2;p14p13)." J. Med. Genet. 29:460-464, 1992. [PMC free article: PMC1016019] [PubMed: 1640424]A family with pregnancy loss was investigated.46,XY,inv ins(3;10)(q13.2;p14p13).&"47,XY,-3,+der(3)inv ins(3;10)(q13.2;p14p13)pat,+18."&"46,XX,-3,+der(3)inv ins(3;10)(q13.2;p14p13)pat."&"47,XXY,inv ins(3)(q13.2;p14p13)."&46,XY,del(10)(p13).Aberration: Inverted insertions between chromosomesChromosomal Aneuploidy: 10p-Negative band - Hou J-W.: Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2). AJMG 130A:200-203, 2004. [PubMed: 15372519]46,XX,t(3;12)(q13.2;p11.2)de novoThe newborn infant had congenital absence of the nose associated with mild respiratory distress, facial anomaliesAberration: Reciprocal translocationMIM#: 603457Index Terms: Congenital arhinia
- Kovacs G, Hoene E: "Loss of der(3) in renal carcinoma cells of a patient with constitutional t(3;12)." Hum. Genet. 78:148-150, 1988. [PubMed: 3422215]Patient was 50 years old.Blood:46,XY,t(3;12)(q13.2;q24.1).&"Blood:46,XY,t(3;12)(3pter -> 3q13.2::12q24.1 -> 12qter;12pter -> 12q24.1::3q13.2 -> 3qter)."Aberration: Reciprocal translocationMIM#: 144700Negative band
- Magenis E, Olson S, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1742.46,XY,inv(3)(q13.2q25)pat.Aberration: Inversion paracentricNegative band
- Shimojima K, Saito K, Yamamoto T.: A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. AJMG Part A: DOI=10.1002.ajmg.a.32963, 2009. [PubMed: 19610083]A 4 year and 11 month old patient.arr 3q13.2q13.31(114,321,633-116,406,833)x1.ish del(3)(q13.2q13.31)(RP11-2405x1,RP11-342J15x1)dnAberration: Interstitial deletionChromosomal Aneuploidy: 3q-
- Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F.: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. AJMG DOI=10.1002/ajmg.a.20378, 2003. [PubMed: 14679581]Patient 1=46,XY,der(3)t(3;12)(3pter->3q13.2::12q12->12qter),der(10)t(3;10)(10pter->10q25::3q13.2->3qter)der(12)t(10;12)(12pter->12q12::10q25->10qter)de novo.Patient was 4 months old.Aberration: Complex translocation
- 03q132 - Chromosomal Variation in Man03q132 - Chromosomal Variation in Man
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