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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Khong T Y, Ford W D A, Haan E A.: Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung''s disease. Arch. Dis. Childhood 71:F212-F213, 1994. [PMC free article: PMC1061129] [PubMed: 7820720]
    46,XY,del(13)(q21.1q22)de novo
    The infant died at the age of 10 months after recurrent bouts of aspiration pneumonia. He had Hirschsprung''s disease, intestinal atresia, umbilical cord ulceration resulting in massive intrapartum haemorrhage.
    Aberration: Interstitial deletion
    MIM#: 142623
    Chromosomal Aneuploidy: 13q-
    Index Terms: Hirschsprung disease,Intestinal atresia,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Lam Y H, Tang M H Y, Ng L K L.: 13q- in a fetus with ultrasonographic diagnosis of exencephaly in the first trimester. Prenat. Diag. 18:634-635, 1998. [PubMed: 9664614]
    Pregnancy was terminated, by suction curettage, because of fetal head anomaly and other features detected by ultrasound examination. Karyotyping done at abortion.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 13q-
    Index Terms: Exencephaly
  • Roberts S H, Cowie V A, Singh K R: Intrachromosomal insertion of chromosome 13 in a family with psychosis and mental subnormality. J. Ment. Def. Res. 30:227-232, 1986. [PubMed: 3023617]
    46,XX or XY,inv ins(13)(q21.3q32q31).&46,XX or XY,inv ins(13)(pter -> q21.2::q32 -> q31::q21.3 -> qter).
    Aberration: Inverted insertions within a chromosome
    Negative band
  • Van Camp G, Van Thienen M N, Handig I, Van Roy B, Rao V S, Milunsky A, Read A P, Baldwin C T, Farrer L A, Bonduelle M, Standaert L, Meire F, Willems P J. : Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J. Med. Genet. 32:531-536, 1995. [PMC free article: PMC1050545] [PubMed: 7562965]
    Patient was a 6 year old boy.
    46,XY,del(13)(q21.2q32)de novo.
    He had unilateral segmental heterochromia of the iris, hypopigmentation of the eye fundus, sensorineural deafness, and delayed psychomotor development.
    The gene responsible for WS and Hirschsprung disease, HSCR is most likely the endothelin-B receptor (EDNRB).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 13q-
    Index Terms: Waardenburg syndrome ... type 2
    Negative band
  • Weibwichert P, Stogmann W: Interstitial deletion of a chromosome Nr. 13: A new syndrome? Klin. Paed. 191:318-324, 1979. [PubMed: 572449]
    Case P. Renate, 030969, KG-Nr. 3727/1976.
    46,XX,del(13)(q212q313).&46,XX,del(13)(pter -> q212::q313 -> qter).&Karyotypes of the parents and three sisters were normal. The 7 year old girl had severe mental and physical retardation, short stature and malformations of the face and limbs.
    Aberration: Terminal deletion
    Index Terms: Facial dysmorphism,Stature ... short (low)
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106153
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