PROXIMAL 15q DELETION IN A FATHER AND SON WITH ISOLATED OBESITY
نویسندگان
چکیده
منابع مشابه
A novel atypical 22q11.2 distal deletion in father and son.
Interstitial deletions of chromosome 22q11.2 are associated with several birth defects and malformations, which include DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. These were all initially described as separate entities, but are now considered to be part of the spectrum of the same condition. The CATCH22 acronym was proposed to encompass this phenotypic variability, but ...
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The natural environment is in a state of constant flux and living organisms are perpetually challenged to adapt to these changes. Yet the mechanisms of adaptation, which lead to the development of new characteristics or behaviours, have troubled philosophers and scientists since the days of ancient Greece. In fact, it was not until 1859, when Charles Darwin (1809– 1882) published The Origin of ...
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Exposing male mice to nicotine or cocaine enables their male offspring to cope with high doses of either, which suggests that such paternal effects are generic, rather than being a response to a specific type of stress.
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Pelger-Huet anomaly is a rare autosomal dominant disorder characterized by pince-nez appearance of the nuclei of the neutrophils. This is caused by failure of nuclear segmentation due to genetic defect in the LBR (laminin B-receptor) on the chromosome 1q41-43. Heterozygotes have dumbbell-shaped or hyposegmented neutrophils with coarse chromatin and normal granules. Homozygotes have neutrophils ...
متن کاملELECTRONIC LETTER A novel atypical 22q11.2 distal deletion in father and son
Interstitial deletions of chromosome 22q11.2 are associated with several birth defects and malformations, which include DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. These were all initially described as separate entities, but are now considered to be part of the spectrum of the same condition. The CATCH22 acronym was proposed to encompass this phenotypic variability, but ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-00378