Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

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Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1

Normal development of the genitourinary (GU) tract is a complex process that frequently goes awry. In male children the most frequent congenital GU anomalies are cryptorchidism (1-4%), hypospadias (1%) and micropenis (0.35%). Bladder exstrophy and epispadias complex (BEEC) (1∶47000) occurs less frequently but significantly impacts patients' lives. Array comparative genomic hybridization (aCGH) ...

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Arthrogryposis as a congenital malformation that refers to the fixed flexion of one or more joints as a result of stiffness or limited movements of multiple joints, change of posture and limb function due to permanent contracture of joints and wasting of muscles that usually occur at early stage of gestation. This report describes congenital arthrogryposis associated with musculoskeletal defect...

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Human Genomic Deletions Generated by SVA-Associated Events

Mobile elements are responsible for half of the human genome. Among the elements, L1 and Alu are most ubiquitous. They use L1 enzymatic machinery to move in their host genomes. A significant amount of research has been conducted about these two elements. The results showed that these two elements have played important roles in generating genomic variations between human and chimpanzee lineages ...

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L1 recombination-associated deletions generate human genomic variation.

Mobile elements have created structural variation in the human genome through their de novo insertions and post-insertional genomic rearrangements. L1 elements are a type of long interspersed element (LINE) that is dispersed at high copy numbers within most mammalian genomes. To determine the magnitude of L1 recombination-associated deletions (L1RADs), we computationally extracted L1RAD candida...

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Frequency of 22q11 deletions in patients with conotruncal defects.

OBJECTIVES This study was designed to determine the frequency of 22q11 deletions in a large, prospectively ascertained sample of patients with conotruncal defects and to evaluate the deletion frequency when additional cardiac findings are also considered. BACKGROUND Chromosome 22q11 deletions are present in the majority of patients with DiGeorge, velocardiofacial and conotruncal anomaly face ...

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ژورنال

عنوان ژورنال: PLoS ONE

سال: 2014

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0107028