822 PARTIAL TRISOMY 11q SYNDROME: ASSOCIATION WITH MICROPENIS
نویسندگان
چکیده
منابع مشابه
Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q.
To the Editor: Omphalocele is not an uncommon malformation; however, it usually occurs sporadically with less than a 1% recurrence risk (Winter & Baraitser 1991 ). We present recurrence of omphalocele in siblings with partial trisomy 3q and partial monosomy 1 lq as the unbalanced product of a t (3; 1 1 ) (q21;q23)mat. This was the fourth pregnancy of an unrelated couple. The mother had one heal...
متن کاملPrecocious puberty associated with partial trisomy 18q and monosomy 11q.
We report a 10-years-old female patient with a 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. Based on cytogenetics and FISH analysis, the karyotype of the proband was 46,XX,d...
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We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Genetic counselling of the family for reproductive risks and testing siblings of ...
متن کاملA novel immunodeficiency syndrome associated with partial trisomy 19p13
BACKGROUND Subtelomeric deletions and duplications may cause syndromic disorders that include features of immunodeficiency. To date, no phenotype of immunological pathology has been linked to partial trisomy 19. We report here on two unrelated male patients showing clinical and laboratory signs of immunodeficiency exhibiting a duplication involving Chromosome 19p13. METHODS Both patients unde...
متن کاملCri-du-chat syndrome combined with partial C-group trisomy.
Case Report K.C., a Caucasian female (Fig. 1), weighing 2250 g was delivered following an uneventful pregnancy. She was noted to have very low-set ears, apparent hypertelorism, micrognathia, webbed neck, low posterior hair line, a prominent occiput with a midline occipital strawberry nevus with hairy tuft, hyperlaxity of joints, hyperelasticity of the skin and bilateral hip dysplasia. A weak ca...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1985
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198504000-00852