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DISTAL 11q MONOSOMY SYNDROME: A REPORT OF TWO EGYPTIAN SIBS WITH NORMAL PARENTAL KARYOTYPES CONFIRMED BY MOLECULAR CYTOGENETICS
- Article from:
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Genetic Counseling
- Article date:
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January 1, 2008
- Author:
- Afifi, H H; Zaki, M S; El-Gerzawy, A M S; Kayed, H F
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Copyright informationCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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Summary: Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics: Jacobsen syndrome is a rare disorder, caused by segmental monosomy for the distal end of the long arm of chromosome 11 with variable phenotypic expressivity. We report on the first male (6 years old) and female (3 years old) sibs with clinical and cytogenetics characterization of Jacobsen syndrome. Their karyotypes showed deletion 11q23.3-qter. Patients presented with growth and psychomotor retardation, facial dysmorphism, eye anomalies, and congenital heart disease (variable degrees of septal defect). Family history revealed a clinically similar brother, ...
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SLEEP PROBLEMS IN INDIVIDUALS WITH 11q TERMINAL DELETION DISORDER...
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April 1, 2008 ;
Maas, A P H M; Grossfeld, P D; Didden, R; Korzilius, H; Braam, W J; Smits, M G; Curfs, L M G;
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......with 11q terminal deletion disorder (Jacobsen syndrome): Characteristics of sleep and sleep...with 11q terminal deletion disorder (Jacobsen syndrome). Data were collected using a sleep...11q terminal deletion disorder - Jacobsen syndrome - Sleep problems - Sleep questionnaire...
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Stallard, Richard;
340 words
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Genetic Counseling;
January 1, 2008 ;
Córdova-Fletes, C; Domínguez, M G; Díaz-Rodríguez, M; Ramírez-Dueñas, M L; Rivera, H;
787 words
......illustrates the clinical variability of the syndrome as well as the occasional reduced survival. The redefinition by molecular cytogenetics of a terminal deletion as an interstitial one suggests that interstitial deletions are more common than reported by...
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Genetic Counseling;
April 1, 2007 ;
Mutesa, L; Hellin, A C; Jamar, M; Pierquin, G; Et al;
787 words
......partial trisomy 18q and monosomy 11q due to a maternal translocation. The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia...
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PR Newswire;
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702 words
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