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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- Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]Family and Pedigree No. 645,XY,t(1;2)(p21.2;p13)de novo,-7,-21,+der(7),t(7;21)(q36 1;q22.1).Multiple malformations in a newborn male.Aberration: Reciprocal translocationNegative band
- Caselli R, Menacarelli M A, Papa F T, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F. : Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. AJMG Part A: DOI=10.1002/ajmg.a.32197, 2008. [PubMed: 18348270]46,XX,del(7)(q36.1-q36.2), 5.27 Mb deletion.Patient was 9 years old.Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-
- Frints S G M, Schoenmakers E F P M, Smeets E, Petit P, Fryns J P.: De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. AJMG 75:153-158, 1998. [PubMed: 9450876]46,XX,del(7)(q36.1->qter)de novoThe patient was 3 mo old with MCA. FISH studies showed deletion of HPE3 critical gene region, including Sonic hedgehog (SHH), En2 (HOX1), and HTR5A. Minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a MRI scan of the brain.Aberration: Terminal deletionMIM#: 157170Chromosomal Aneuploidy: 7q-Index Terms: Holoprosencephaly
- Kleczkowska A, Fryns J P, Moerman Ph, Vandenberghe K, van den Berghe H: "Holoprosencephaly in a fetus with a 46,XX,t(7;8)(q36.1;p12)mat karyotype." Ann. Genet. 33:111-112, 1990. [PubMed: 2241084]46,XX,t(7;8)(q36.1;p12).,46,XX,der(7),t(7;8)(7pter->7q36.1::8p12->8pter)mat.Aberration: Reciprocal translocationMIM#: 157170Index Terms: HoloprosencephalyNegative band
- Masuno M, Fukushima Y, Sugio Y, Ikeda M, Kuroki Y: Two unrelated cases of single maxillary central incisor with 7q terminal deletion. Jpn. J. Hum. Genet. 35:311-317, 1990. [PubMed: 2094780]Case 1: KCMC 101702 was 2 1/2 years old.46,XX,del(7)(pter -> q36.1:)de novo.Case 2: KCMC was 7 2/12 years old.46,XY,del(7)(pter -> q36.1:).Aberration: Terminal deletionChromosomal Aneuploidy: 7q-Index Terms: Incisor ... single maxillary centralNegative band
- Savage N M, Maclachlan N A, Joyce C A, Moore I E, Crolla J A.: Isolated sacral agenesis in a fetus monosomic for 7q36.1->qter. J. Med. Genet. 34:866-868, 1997. [PMC free article: PMC1051099] [PubMed: 9350825]Father=46,XY,t(7;19)(q36.1;q13.43).ish t(7;19)(D7S427-;D7S427+).,Fetus=46,XX,der(7)t(7;19)(q36.1;q13.43).ish der(7)t(7;19)(D7S427-)pat.The 29 year-old woman was referred because of raised MSAFP. Upon ultrasound examination, intrauterine growth retardation and a possible sacral anomaly was diagnosed and amniocentesis was performed. Pregnancy was terminated.Aberration: Simple translocationChromosomal Aneuploidy: 7q-Index Terms: Sacral agenesis isolated
- 07q361 - Chromosomal Variation in Man07q361 - Chromosomal Variation in Man
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