Complex translocation involvi'ng chromosomes Y, 1,I and 3 resulting in deletion of segment 3q23--*q25The proband was the first child of non-consanguineous parents. He has a younger, phenotypically normal sister. Birth weight was 1-9 kg and he had respiratory distress at birth. Psychomotor development was delayed. His height and weight were on the 3rd centile and his head circumference was below the 3rd centile. He started to walk at 2½1/ years and could say a few words at 3½1/ years. 10 was assessed to be around 75 to 80.The proband had microbrachycephaly, a flat occiput, depressed supraorbital ridges, and flat nasal bridge. Palpebral fissures were narrow and upward slanting. There

Here we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.

A child with a de novo interstitial deletion, 46,XX,del(2)(q3 1q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet. Partial trisomies and monosomies of chromosome 2 are rare but several cases of balanced rearrangements involving this chromosome have been reported. We report a case of a de novo interstitial deletion of the long arm of chromosome 2 in a 2-year-old girl.

No abstract

No abstract

Most reported cases of Weaver syndrome are sporadic, and the mode of inheritance is still unclear. We describe two (male and female) sibs born to consanguineous Bedouin parents with manifestations resembling Weaver syndrome. Both sibs had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse low-pitched cry. One of them had an accelerated harmonic skeletal maturation. Differentiating features from Weaver syndrome are discussed, and autosomal recessive inheritance is suggested.

No abstract

No abstract