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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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15q150

15q15
  • Abeliovich D, Dagan J, Lerer I, Silberstein S, Bat-Miriam Katznelson M, Frydman M.: t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offsping. AJMG 66:45-51, 1996. [PubMed: 8957510]
    Patient IL-1:
    46,XX,-15,+der(21)t(15;21)(q15;q22.1)pat.
    She was 13 years old and referred because of obesity and MR.
    Patient IL-2:
    46,XY,-21,+der(15)t(15;21)(q15;q22.1)pat.
    He was 7 years old with several dysmorphic features and aggressive behavior with temper tantrums.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 15q-;15q+
    Negative band
  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 39:
    t(15;16)(q15;q13)mat.
    Family ascertained because of a previous infant with MCA.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band
  • Same entry as in 05q350,09p230,12q130 (Boue and Gallano, 1984).
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(15;19)(q15;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Del Porto G, D''Alessandro E, De Matteis C, D''Innocenzo R, Baldi M, Pachi A, Cappa F: Familial paracentric inversion of chromosome 15 (q15q24). J. Med. Genet. 21:451-453, 1984. [PMC free article: PMC1049346] [PubMed: 6512834]
    46,XX or XY,inv(15)(q15q24).
    Aberration: Inversion paracentric
    Negative band
  • Fukushima Y, Wakui K, Nishida T, Nishimoto H: Craniosynostosis in an infant with an interstitial deletion of 15q \46,XY,del(15)(q15q22.1)\. AJMG 36:209-213, 1990. [PubMed: 2368808]
    46,XY,del(15)(q15q22.1).
    The infant was malformed with craniosynostosis.
    The deleted chromosome was of paternal origin.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 15q-
    Index Terms: Craniosynostosis
    Negative band
  • Galan-Gomez E, Cardesa-Garcia J J, Campo-Sampedro F M, Salamanca-Maesso C, Martinez-Frias M L, Frias J L.: Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children. AJMG 59:276-282, 1995. [PubMed: 8599349]
    Case 4, SBO:
    46,XY,der t(15;17)(15q;21q)mat
    Aberration: Simple translocation
    MIM#: 147920
    Index Terms: Kabuki Make-up (Niikawa-Kuroki) syndrome
    Negative band
  • Garzicic B, Guc M, Lah N: "A (19;15) translocation." Genetika (Yugoslavia) 13:69-71, 1981.
    45,XY,t(15;19)(15q15::19q13 -> 19pter).
    Patient was 2 years old with multiple congenital anomalies including muscle hypotonia, hydrocephalus and defectus septi interatrii. Parental karyotypes were normal. This case is presented as 15 monosomy (15pter->15q15).
    Aberration: Simple translocation
    Index Terms: Hydrocephalus,Hypotonia
    Negative band
  • Han J-Y, Kim K-H, Lee H-D, Moon S-Y, Shaffer L G.: De novo direct duplication of 15q15->q24 in a newborn boy with mild manifestations. AJMG 87:395-398, 1999. [PubMed: 10594877]
    46,XY,dup(15)(q15q24).ish dup(15)(wcp15+)de novo
    The 25-day-old boy was small for his gestational age of 40 weeks. He was referred for the evaluation of heart murmur, anterior fontanel widening, a fissure-like dimple on left lower neck region, and recent episodes of coughing, vomitting, and dyspnea.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 15q+
  • Hood O J, Rouse B M, Lockhart L H, Bodensteiner J B: Proximal duplications of chromosome 15: clinical dilemmas. Clin. Genet. 29:234-240, 1986. [PubMed: 3698332]
    Patient was 3 years old with several anomalies and retarded development.
    47,XY,+del(15)(pter -> q15:).
    Aberration: Terminal deletion
    Negative band
  • Howard-Peebles P N, 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 Nos. 1151 and 1152.
    46,XX,t(15;18)(q15;p11)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Hutchinson S, Furger A, Halliday D, Judge D P, Jefferson A, Dietz H C, Firth H, Handford P A.: Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum. Mol. Genet. 12:2269-2276, 2003. [PubMed: 12915484]
    46,XX,del(15)(q15q22.1).
    The 10 year-old MFS patient''s fibrillin-1 protein and mRNA levels were significantly higher than expected for a single FBN1 allele.
    Aberration: Interstitial deletion
    MIM#: 154700
    Chromosomal Aneuploidy: 15q-
    Index Terms: Marfan syndrome (MFS), FBN1, MFAP1
  • Kadotani T, Kanata S, Kubo S, Kodama H, Watanabe Y: An additional case of partial trisomy for the No. 15 chromosome. Proc. Jpn. Acad. (Ser. B) 60:134-136, 1984.
    47,XY,+del(15)(q15qter).
    Aberration: Terminal deletion
    Negative band
  • Mankinen C B, Holt J G, Sears J W: Partial trisomy 15 in a young girl. Clin. Genet. 10:27-32, 1976. [PubMed: 949862]
    47,XX,+del(15)(q15).&47,XX,+del(15)(pter -> q15:).&This five-year-old was severely retarded, had microcephaly, micrognathia, cleft palate, hooked nose, flabby ears, pronounced elongated philtrum and generalized decreased subcutaneous tissue.
    Aberration: Terminal deletion
    Index Terms: Cleft lip/palate,Ears ... flabby,Microcephaly,Micrognathia,Philtrum ... long
    Negative band
  • Mori M A, Rodriguez L, Pinel I, Casas J M, Diaz de Bustamante A, Martinez-Frias M L: "Partial monosomy 15q due to de novo t(15;22)(q15;p11)." Ann. Genet. 30:246-248, 1987. [PubMed: 3322163]
    Parental karyotypes were normal.
    45,XY,-15,-22,+t(15;22)(q15;p11).&"45,XY,-15,-22,+t(15;22)(22qter -> 22p11::15q15 -> 15qter)."
    Patient was two years old with psychomotor delay and facial dysmorphism.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q-
    Index Terms: Facial dysmorphism
    Negative band
  • Same entry as in 05q310,07q340 (Portnoi M F et al, 1988).
  • Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
    Case 30: 86-468.
    The fetal karyotype was normal.
    46,XY,t(15;16)(q15;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Shur N, Cowan J, Wheeler P G.: Craniosynostosis and congenital heart anomalies with a maternal deletion of 15q15-2.1. AJMG DOI=10.1002/ajmg.a.20093;120A:542-546, 2003. [PubMed: 12884436]
    46,XX,del(15)(q15q22.1)de novo, maternally derived
    The 10 month old infant had MCA.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 15q-
    Index Terms: Craniosynostosis
  • Same entry as in 09q320,15q120 (Voullaire L E et al, 1989).
  • Same entry as in 01p130, 03p240 (Wenger et al, 1995).
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105496
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