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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-.

Cover of Chromosomal Variation in Man

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

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  • Same entry as in 0Xq280 (Masuno et al, 1997).

  • Ballif B C, Theisen A, McDonald-McGinn D M, Zackai E H, Hersh J H, Bejjani B A, Shaffer L G.: Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2. Clin. Genet. 74: 469-475, 2008. [PubMed: 18811697]
    46,XX and XY,del(16)(q11.2q12.2).
    Two patients were reported.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16q-
  • Borck G, Rio M, Sanlaville D, Redon R, Molinari F, Bacq D, Raoul O, Cormier-Daire V, Lyonnet S, Amiel J, Le Merrer M, de Blois M-C, Prieur M, Vekemans M, Carter N P, Munnich A, Colleaux L. : Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. Clin. Genet. DOI=10.1111/j.1399-0004.2004.00288.x; 66:122-127, 2004. [PubMed: 15253762]
    97 patients were tested with 400 markers.
    Family 2: Three sibs had similar phenotypes with severe MR, deafness, distinctive facial features.
    46,XX/XY,der del(16)(q11.2q12.1)mat.ish (D16S3105-,D16S3044-).
    The healthy mother who carried the deletion was most likely a germinal mosaic.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16q-
  • Doco-Fenzy M, Elchardus J F, Brami G, Digeon B, Gruson N, Adnet J J.: Multiple critical smallest region of overlap in monosomy 16q syndrome. Genet. Counsel. 5:39-44, 1994. [PubMed: 8031534]
    Patient was 18 months old with dysmorphic features.
    46,XX,del(16)(q11.2q12.2)de novo
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16q-
  • Eggermann T, Kolin-Gerresheim I, Gerresheim F, Schwanitz G.: A case of de novo translocation 16;21: trisomy 16q phenotype and origin of the aberration. Ann. Genet. 41:205-208, 1998. [PubMed: 9881183]
    The boy at one of year of age shows no mental development and has MCA
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 16q+
  • Engelen J J M, De Die-Smulders C E M, Vos P T H, Meers L E C, Albrechts J C M, Hamers A J H.: Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature. Ann. Genet. 42:101-104, 1999. [PubMed: 10434124]
    The 28 year old patient was evaluated because of severe growth and mental retardation.
    46,XY,dir dup(16)(q11.2->q13).
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 16q+
  • Hsu L Y F, Benn P A, Tannenbaum H L, Perlis T E, Carlson A D: Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. AJMG 26:95-101, 1987. [PubMed: 3812584]
    Familial studies are not recommended for such polymorphisms.
    Aberration: Marker chromosome
    Variable band
  • Knoblauch H, Thiel G, Tinschert S, Korner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C.: Clinical and molecular studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transciption factor gene SALL1. J. Med. Genet. 37:389-392, 2000. [PMC free article: PMC1734584] [PubMed: 10905896]
    Fetal blood=46,XY,del(16)(q11.2q21)de novo. Confirmed in skin fibroblast culture also.
    Ultrasound examination at 24 weeks detected cleft lip and palate. Mother was 31 years old. Pregnancy was terminated. MCA noted.
    Haploinsufficiency of SALL1 might cause Townes-Brocks syndrome (TBS).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16q-
    Index Terms: SALL1,Townes-Brocks syndrome
    No band
  • Leonard C, Huret J L, Imbert M C, Lebouc Y, Selva J, Boulley A M: "Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature." AJMG 43:621-625, 1992. [PubMed: 1605261]
    46,XX,t(16;21)(q11.2;p11.2).&47,XX,+der(16)(16pter -> 16q11.2::21p11.2 -> 21pter)mat.
    The patient died at the age of 3 days.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p+
    Variable band
  • Perez C, Lloveras E, Zamora L, Melero C, Perez E, Plaja A.: Prenatal detection of a paracentric inversion 16(q11.2q13). Ann. Genet. DOI=10.1016/S003-3995(02)01125-5; 45:141-142, 2002. [PubMed: 12381445]
    46,XY,der inv(16)(q11.2q13)pat.
    Prenatal diagnosis was done because of advanced maternal age (38 years). A phenotypically normal baby born was born at term.
    Aberration: Inversion paracentric
  • Pugliese G F, Latorre G, Latorre F.: Chromosomal and clinical features in an infant with Hallermann-Strieff syndrome. Arch. Dis. Childhood 77:184, 1997. [PMC free article: PMC1717296] [PubMed: 9301367]
    The 10 month old patient had fractures of long bones, micrognathia and macroglossia.
    Aberration: Marker chromosome
    Index Terms: Hallermann-Strieff syndrome
    No band
  • Romain D R, Frazer A G, Columbano-Green L M, Parfitt R G, Smythe R H, Chapman C J: Direct intrachromosomal duplication of 16q and heritable fragile site fra (10)(q25) in the same patient. AJMG 19:507-513, 1984. [PubMed: 6507497]
    46,XX,dir dup(16)(q11.2q13)fra(10)(q25).
    Aberration: Direct duplication
    Variable band
  • van den Berg L, Delemarre-van de Waal H, Han J C, Ylstra B, Eijk P, Nesterova M, heutink P, Stratakis C A.: Investigation of a patient with partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping and FTO gene expression study. AJMG Part A: 152A: 630-637, 2010. [PMC free article: PMC3031344] [PubMed: 20186806]
    Case previously described by Stratakis et al (2000). J. Clin. Endocrinol. Metab. 85: 3396-3401.
    Aberration: Duplication
    Chromosomal Aneuploidy: 16q+
    Index Terms: Fat mass and obesity (FTO)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106693
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