منابع مشابه
Partial 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 کامل8p 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 کاملA Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.
We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and pos...
متن کاملChild with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations
A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytoge...
متن کاملExpression of fragile Xq 27.3 in a patient with clinical features of deletion 9p syndrome.
The propositus was a 12-month-old male born to non consanguineous parents at 3rd full term breech delivery. His weight was 7.4 kg, height was 65.5 cm and head circumference was 39 cm. The clinical examinations showed the features of deletion 9p syndrome, viz., trigonocephaly, flat nasal bridge, anteverted nares, long philtrum, wide spaced nipples, micrognathia, short stubby hands and the featur...
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ژورنال
عنوان ژورنال: Medicni perspektivi (Medical perspectives)
سال: 2014
ISSN: 2307-0404
DOI: 10.26641/2307-0404.2014.3.28507