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2005 | 46 | 4 |
Tytuł artykułu

Ambiguous genitalia by 9p deletion inherent to a dic [Y:9][q12:p24]

Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Miillerian derivates. His karyotype was 45,X,der(Y;9)(q12;p24).ish der(Y;9)(DYZ3+,SRY+,9ptel-) de novo. This patient's impaired sex differentiation is consistent with gonadal dysgenesis and compares with the male-to-female sex reversal secondary to a partial 9p deletion in spite of an intact Yp or SRY locus documented in 24 patients including a sex-reversed girl with a (Y;9) dicentric derivative. As for the cytogenetic findings, this case represents the second instance of a de novo pseudodicentric (Y;9) chromosome with loss of both distal 9p and Yq12 regions, apparent intactness of SRY, and consistent or preferential inactivation of the Y centromere. In addition, the possible 9p23p-p22 duplication observed in this case evokes the concomitant 9p22-p21 duplication documented in the previous girl with a (Y;9) derivative. Hence, these striking similarities point to a nonrandom Y;9 rearrangement in patients with either sex reversal or gonadal dysgenesis. Even if the present pseudodicentric derivative had inactivated the Y centromere, the existence of some variant cells points to functional dicentricity as it has been documented in other Y;autosome dicentric derivatives.
Słowa kluczowe
EN
Wydawca
-
Rocznik
Tom
46
Numer
4
Opis fizyczny
p.415-418,fig.,ref.
Twórcy
  • Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Guadalajara, Jal., Mexico
autor
autor
autor
Bibliografia
  • Calvari V, Bertini V, de Grandi A, Camerino G, Borsani G, Guioli S, 2000. A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203-212.
  • Christ LA, Crowe CA, Micaele MA, Conroy JM, Schwartz S, 1999. Chromosome breakage hotspots and delineation of the critical region for the 9p- deletion syndrome. Am J Hum Genet 65: 1387-1395.
  • Flejter WL, Fergestad J, Gorsk J, Varvill T, Chandrasekharappa S, 1998. A gene involved in XY reversal is located on chromosome 9, distal to marker D9S1779. Am J Hum Genet 63: 794-802.
  • Littooij AS, Hochstenbach R, Sinke RJ, van Tintelen P, Giltay JC, 2002. Two cases with partial trisomy 9p: molecular cytogenetic characeterization and clinical follow-up. Am J Med Genet 109: 125-132.
  • Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, et al. 2000. Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases. J Clin Endocrinol Metab 85: 3094-3100.
  • Ottolenghi C, Veitia R, Quintana-Murci L1, Torchard D, Scapoli L, Souleyreau-Therville N, et al. 2000. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain. Genomics 64: 170-178.
  • Óunap K, Uibo O, Zordania R, Kiho L, Ilus T, Óiglane-Shlik E, Bartsch O, 2004. Three patients with 9p deletion including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development. Am J Med Genet 130A: 415-423.
  • Quintana-Murci L, Fellows M, 2001. The human Y chromosome: the biological role of a "functional wasteland". J Biomed Biotechnol 1: 18-24.
  • Rangel-Villalobos H, Jaloma-Cruz AR, Sandoval L, Velarde-Felix JS, Gallegos-Arreola MP, Figuera LF, 2001. Y-chromosome haplotypes for six short tandem repeats (STRs) in a Mexican population. Arch Med Res 32: 232-237.
  • Ravel de TJL, Fryns JP, Van Driessche J, Vermeesch JR, 2004. Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. Am J Med Genet 124A: 259-262.
  • Redd AJ, Agellon AB, Kearney VA, Contreras VA, Karafet T, Park H, et al. 2002. Forensic value of 14 novel STRs on the human Y chromosome. Forensic Sci Int 130: 97-111.
  • Shan Z, Zabel B, Trautmann U, Hillig U, Ottolenghi C, Wang Y, Haaf T, 2000. FISH mapping of the sex- reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet 8: 167-173.
  • Siffroi JP, Benzacken B, Angelopoulou R, Bourhis CL, Berthaut I, Kanafani S, et al. 2001. Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia. J Med Genet 38: 802-806.
  • Vialard F, Ottolenghi C, Gonzalez M, Choiset A, Girard S, Siffroi JP, et al. 2002. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses. J Med Genet 39: 514-518.
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.agro-article-90ab7531-a619-43ef-8256-b773f900abc1
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