منابع مشابه
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
INTRODUCTION Phelan-McDermid syndrome (PMS) is caused by SHANK3 haploinsufficiency. Its wide phenotypic variation is attributed partly to the type and size of 22q13 genomic lesion (deletion, unbalanced translocation, ring chromosome), partly to additional undefined factors. We investigated a child with severe global neurodevelopmental delay (NDD) compatible with her distal 22q13 deletion, compl...
متن کاملClinical Notes CATCH 22 Syndrome
CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It is associated with a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. In DiGeorge’s original report, he focused on thymic hypoplasia and hypo...
متن کاملFour new cases of ring 21 and 22 including familial transmission of ring 21.
Four new cases of ring G chromosomes are presented including one family in which the ring 21 is present in a mother and in her daughter, who has 47, XXX, r(21) chromosomes. The clinical and dermatoglyphic findings in r21 and r22 syndromes are reviewed.
متن کاملRECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
متن کاملD13 ring chromosome syndrome.
A case of ring D13 chromosome, confirmed by trypsin banding, is described. Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males.
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1994
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-8-2-2