Duplication 6p and deletion 9p.
نویسندگان
چکیده
منابع مشابه
8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome
We describe two individuals with the same chromosomal aberrations derived from an unbalanced translocation between chromosomes 8p and 9p, who presented with intellectual disabilities, dysmorphic features, and localization-related epilepsy. Several years after the onset of epilepsy, aggravation of widespread epileptic discharges during sleep resulted in the emergence of absence and/or atonic sei...
متن کاملDevelopmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication.
Report of a Case. The patient, born by cesarean delivery at 38 weeks’ gestation and weighing 3760 g, was the first child (male) of healthy parents. Bilateral polydactyly was observed at birth (Figure, A). At 2 months of age, he was admitted to another hospital and developmental glaucoma was suspected based on findings of enlarged corneal diameter, ocular hypertension, and bilateral abnormal opt...
متن کاملPartial deletion 9p syndrome in Malaysian children.
We report the first two Malaysian children with partial deletion 9p syndrome, a well delineated but rare clinical entity. Both patients had trigonocephaly, arching eyebrows, anteverted nares, long philtrum, abnormal ear lobules, congenital heart lesions and digital anomalies. In addition, the first patient had underdeveloped female genitalia and anterior anus. The second patient had hypocalcaem...
متن کاملGlomerulopathy in patients with distal duplication of chromosome 6p.
BACKGROUND Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a proteinuric glomerulopathy. CASE PRESENTATION Here, we report a 13-year-old girl with 6p25.3p22.1 duplication who presented with proteinuria in...
متن کاملComplex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb terminal deletion associated with the inverted duplication of the adjacent 21,5 Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.1.64