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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: Expansion of phenotypic spectrum
European Journal of Medical Genetics, Volume 55, No. 1, Year 2012
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Description
We describe a 5 2/12 years old male patient with a de novo deletion 1q43q44 of approximately 10.4 Mb in size. The boy presented with the classic features of chromosome 1q43q44 deletion syndrome including growth and psychomotor retardation, microcephaly, distinct facial features and various midline defects as agenesis of corpus callosum, cardiac and urogenital anomalies. Fronto-parietal simplified gyral pattern was an additional neuroimaging finding. The urogenital anomalies in our patient were remarkable in form of bladder exstrophy and severe hypogenitalism with a marked hypoplastic scrotum, small sized retractile testis and absent phallus. To the best of our knowledge, bladder exstrophy and absence phallus have not been previously reported in terminal deletion 1q43q44 syndrome. This report provides further evidence of phenotype-genotype correlation and expands the phenotypic spectrum of midline defects described with this syndrome. © 2011 Elsevier Masson SAS.
Authors & Co-Authors
Zaki, Maha S.
Egypt, Giza
National Research Centre
Gillessen-Kaesbach, G.
Germany, Lubeck
Universität zu Lübeck
Vater, Inga
Germany, Kiel
Christian-albrechts-universität zu Kiel
Caliebe, Almuth
Germany, Kiel
Christian-albrechts-universität zu Kiel
Siebert, Reiner
Germany, Kiel
Christian-albrechts-universität zu Kiel
Kamel, Alaa Khalil
Egypt, Giza
National Research Centre
Mohamed, Amal Mahmoud
Egypt, Giza
National Research Centre
Mazen, I. M.
Egypt, Giza
National Research Centre
Statistics
Citations: 16
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1016/j.ejmg.2011.09.003
ISSN:
17697212
e-ISSN:
18780849
Research Areas
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases
Sexual And Reproductive Health
Participants Gender
Male