Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies

Elejalde, B. Rafaël; Opitz, John M.; Elejalde, Maria Mercedes de; Gilbert, Enid F.; Abellera, Mario; Meisner, Lorraine F.; Lebel, Robert Roger; Hartigan, J. Michael; Breg, W. Roy

doi:10.1002/ajmg.1320170403

Cited by 39 publications

(43 citation statements)

References 21 publications

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“…The only cytogenetically similar cases are those described by Elejalde et al (1984), Garcia-Heras et al (1999), Warden et al (2001) and Cogulu et al (2003) with a dir dup(1)(p35p31), an inv dup(1) (p34.1p31), an inv dup(1)(q34.3p32.2) and an inv(1)(p36.2 p13.2), respectively. However, the chromosomal regions of these previously reported cases do not directly overlap those described in the present case M-1.…”

Section: Discussionmentioning

confidence: 97%

“…Bartsch et al, 2001;Nowaczyk et al, 2003), duplications within the region 1p36.2 → 1p31 are very rarely described (Elejalde et al, 1984;Garcia-Heras et al, 1999;Warden et al, 2001;Cogulu et al, 2003).…”

Section: Discussionmentioning

confidence: 99%

“…In contrast, other rearrangements of the region 1p36 → p32 (excluding translocations) have been described only rarely, i.e. three cases with duplications (Elejalde et al, 1984;GarciaHeras et al, 1999;Warden et al, 2001) and one with an inversion (Cogulu et al, 2003). For the distal long arm of chromosome 1 (bands q32 → q44), excluding interchromosomal translocations, only duplications have been described to date (for review see Bartsch et al, 2001 andNowaczyk et al, 2003).…”

confidence: 99%

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Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Polityko

Starke²,

Rumyantseva³

et al. 2005

Cytogenet Genome Res

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In this report, we describe three unrelated patients with similar symptoms such as mental retardation, growth delay and multiple phenotypic abnormalities. GTG-banding analysis revealed karyotypes with add(1p) in two cases and an add(1q) in the third. Fluorescence in situ hybridization (FISH) analysis using high resolution multicolor banding (MCB) characterized the aberrations of the abnormal chromosomes 1 as a (sub)terminal duplication and inverted duplications, respectively. Although three different chromosomal regions i.e. 1p36.1, 1p36.2→1p31.3 and 1q41→1q44 were involved, all three patients had similar patterns of dysmorphic findings. These cases demonstrate the power of MCB in the characterization of small interstitial chromosomal aberrations and resulted in the characterization of three previously unreported congenital chromosome 1 rearrangements.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

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Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Polityko

Starke²,

Rumyantseva³

et al. 2005

Cytogenet Genome Res

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“…The human orthologue to Serbp1 maps to chromosome 1p31, whereas Khdrbs1 has a human orthologue mapping to 1p32. The region containing these genes is duplicated in a variety of human DSDs including male-to-female sex reversal with hypergonadotrophic hypogonadism (81), male pseudohermaphroditism (82), and cryptorchidism (83). SERBP1 has been shown to interact with the progesterone receptor membrane component 1 (PGRMC1), forming a plasma membrane complex that modulates the antiapoptotic and antimitotic actions of progesterone in ovarian cells (84,85).…”

Section: Potential Candidates For Human Dsdsmentioning

confidence: 99%

Global Survey of Protein Expression during Gonadal Sex Determination in Mice

Ewen

Baker

Wilhelm

et al. 2009

Molecular & Cellular Proteomics

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“…Num paciente portador de disgenesia gonadal 46,XY com múltiplas malformações, foi identificada a duplicação da região 1p31-1p35, localização do gene WNT4 (27). Este relato sugere a participação do gene na cascata da determinação gonadal em humanos (28).…”

Section: Gene Wt1 (Gene Supressor Do Tumor De Wilm's) -Omim 194070unclassified

Aspectos Moleculares da Determinação e Diferenciação Sexual

Domenice

Costa

Corrêa

et al. 2002

Arq Bras Endocrinol Metab

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RESUMOEmbora muitos eventos que participam do processo de desenvolvimento sexual normal não estejam elucidados, está estabelecido que a determinação do sexo gonadal é a responsável pela diferenciação sexual durante a vida fetal. Deste processo participam vários genes que interagem entre si, como SRY e DAX1, localizados nos cromossomos sexuais e os autossômicos WT-1, SF-1 e SOX9. Sua ação na determinação gonadal ainda não está esclarecida, mas mutações identificadas nestes genes resultaram na ausência da formação gonadal ou na presença de gônadas disgenéticas. A diferenciação da genitália interna masculina incluindo a descida testicular, requer secreção e ação local normal da testosterona nos ductos de Wolf e do hormônio anti mülleri-ano (HAM) nos ductos de Müller, impedindo sua diferenciação. Os genes Insl3 e HOX participam da descida intra-abdominal dos testículos na espécie humana, e a descida inguino-escrotal é controlada pelos andrógenos, sendo os principais genes envolvidos nessa fase da embriogênese o do receptor de andrógenos, o do HAM e o do seu receptor. Mutações em um desses genes resultam em ambigüidade e/ou subdesenvolvimento da genitália interna masculina. No sexo feminino, os genes da família Wnt (Wnt-7a e Wnt-4) parecem ter um papel no desenvolvimento dos ductos Müllerianos e na supressão da diferenciação das células de Leydig no ovário. A ambigüidade genital pode resultar da deficiência da produção de testosterona pelas células de Leydig, de distúrbios no receptor androgênico ou de defeito na metabolização da testosterona pela 5α-redutase 2. Estão envolvidos nesta fase da diferenciação os seguintes genes: do receptor do LH/hCG, do CYP11A1, do P450scc, do CYP17, do HSD3B2 e do HSD17B3 que codificam as respectivas enzimas envolvidas na síntese de testosterona, além do gene do receptor androgênico e do gene SRD5A2. Avanços na compreensão dos mecanismos envolvidos nos processos da determinação e diferenciação sexual foram possíveis com os novos conhecimentos de biologia molecular. Diversas etapas deste processo serão ainda esclarecidas com a identificação de novos genes, que também participam deste complexo mecanismo de interações gênicas. Many of the events that influence the process of normal sexual development have not been completely clarified, however it is well established that gonadal sex determination is responsible for sexual differentiation during fetal life. Several interacting genes participate in this process, and the most important are: SRY and DAX-1 genes located in the sexual chromosomes and the autosomic genes WT1, SF-1, and SOX9. The precise action of these genes on gonadal determination is yet to be clarified, but their participation is fundamental since mutations identified in these genes result in the absence of gonadal development or the revisão

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Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies

Cited by 39 publications

References 21 publications

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding

Global Survey of Protein Expression during Gonadal Sex Determination in Mice

Aspectos Moleculares da Determinação e Diferenciação Sexual

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