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[PMID]: | 29248929 |
[Au] Autor: | Amasdl S; Smaili W; Natiq A; Hassani A; Sbiti A; Agadr A; Sanlaville D; Sefiani A |
[Ad] Endereço: | Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco. |
[Ti] Título: | Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness. |
[So] Source: | Cytogenet Genome Res;153(2):66-72, 2017. | [Is] ISSN: | 1424-859X |
[Cp] País de publicação: | Switzerland |
[La] Idioma: | eng |
[Ab] Resumo: | Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes. |
[Mh] Termos MeSH primário: |
Anormalidades Múltiplas/genética Arilsulfatases/genética Cromossomos Humanos X/genética Cromossomos Humanos Y/genética Perda Auditiva Bilateral/genética Perda Auditiva Neurossensorial/genética Translocação Genética
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[Mh] Termos MeSH secundário: |
Arilsulfatases/deficiência Cromossomos Humanos X/ultraestrutura Cromossomos Humanos Y/ultraestrutura Consanguinidade Feminino Seres Humanos Hipertelorismo/genética Recém-Nascido Cariotipagem Masculino Meia-Idade Marrocos Linhagem Fenótipo Rádio (Anatomia)/anormalidades Escoliose/genética Irmãos Ulna/anormalidades Adulto Jovem
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[Pt] Tipo de publicação: | CASE REPORTS; JOURNAL ARTICLE |
[Nm] Nome de substância:
| EC 3.1.6.- (ARSE protein, human); EC 3.1.6.1 (Arylsulfatases) |
[Em] Mês de entrada: | 1802 |
[Cu] Atualização por classe: | 180220 |
[Lr] Data última revisão:
| 180220 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 171218 |
[St] Status: | MEDLINE |
[do] DOI: | 10.1159/000485071 |
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