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A Recombinant Abnormal Gamete Resulting from a Balanced Pericentric Inversion of Chromosome 4: an Affected Boy with Wolf-Hirschhorn Phenotypes

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Year: 2018
COI code: CIGS15_440
Paper Language: English

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Authors A Recombinant Abnormal Gamete Resulting from a Balanced Pericentric Inversion of Chromosome 4: an Affected Boy with Wolf-Hirschhorn Phenotypes

Sadaf Omori Sarabi - Parseh pathobiology and genetics laboratory, Tehran-Iran
Claudia Behrend - Praxis für Medizinische Genetik Düsseldorf , Germany
Mir Majid Mossalaeie - Parseh pathobiology and genetics laboratory, Tehran-Iran
Seyed Behrooz Mohseni Moghadam -
Masoume Soleymani - Parseh pathobiology and genetics laboratory, Tehran-Iran
Saeedeh Kakadezfouli - Parseh pathobiology and genetics laboratory, Tehran-Iran

Abstract:

Wolf-Hirschhorn syndrome is a genetic disorder that characterized by distinct craniofacial dysmorphology, pre- and postnatal growth deficiency, intellectual disability and seizures. During meiosis, chromosome 4 homologue with a pericnetric inversion can give rise to two recombinant chromosome 4; namely partial monosomy 4p/partial trisomy 4q or partial monosomy 4q/partial trisomy 4p, respectively. Here, we report a one-year-old Iranian boy presented with distinct clinical features of Wolf-Hirschhorn syndrome. G banded chromosome analysis of the proband cultured lymphocytes revealed 46 chromosomes in all cells with a chromosome 4 with partial monosomy 4p and partial Trisomy 4q. Parental chromosome analysis was done to assess whether this abnormal chromosome 4 is inherited or de novo. Karyotyping result of his father was designated as 46,XY,inv(4)(p16.3q34.3). Further characterization of breakpoints with array-CGH confirmed the karyotyping result and revealed a deletion/duplication syndrome, about 50kb in the size, with 4p partial monosomy and 4q partial Trisomy. Final karyotype nomenclature was: 46,XY,rec(4)dup(4q)inv(4)(p16.3q34.3)pat. To date few cases of rec(4) with the different break point have been published. The phenotype variability and the viability of the recombinant offspring depend on the size of the deletion/duplication segments. Our result highlights that the parental chromosomal rearrangements can also contributes to the pathogenesis of such a popular chromosomal microdeletion syndrome and underscores the need to analyze parental karyotype for precise genetic counseling.

Keywords:

Wolf-Hirschhorn; pericentric inversion; recombinant chromosome; rec(4); Array CGH; partial monosomy; partial trisomy

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COI code: CIGS15_440

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Omori Sarabi, Sadaf; Claudia Behrend; Mir Majid Mossalaeie; Seyed Behrooz Mohseni Moghadam; Masoume Soleymani & Saeedeh Kakadezfouli, 2018, A Recombinant Abnormal Gamete Resulting from a Balanced Pericentric Inversion of Chromosome 4: an Affected Boy with Wolf-Hirschhorn Phenotypes, The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_440.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Omori Sarabi, Sadaf; Claudia Behrend; Mir Majid Mossalaeie; Seyed Behrooz Mohseni Moghadam; Masoume Soleymani & Saeedeh Kakadezfouli, 2018)
Second and more: (Omori Sarabi; Behrend; Mossalaeie; Mohseni Moghadam; Soleymani & Kakadezfouli, 2018)
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