Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

We identified a novel 6.33 Mb deletion of 1q21.3q23.3 (hg18; chr1: 153035245-159367106) in two siblings presenting with blepharophimosis, ptosis, microbrachycephaly, severe psychomotor, and intellectual disability. Additional common features include small corpus callosum, normal birth length and head circumference, postnatal growth restriction, low anterior hairline, upturned nose, bilateral pr...

Genetic considerations in recurrent congenital diaphragmatic hernia in two siblings.

Balanced Reciprocal Translocation in A Case of Recurrent Miscarriage

Reciprocal translocation carriers have reduced fertility, increased risk of spontaneous abortion or unbalanced karyotype in their offspring. Here, we report the inheritance of a translocation between chromosomes 12 and 16 in a family with a history of five consecutive blighted ova and an offspring with three cell lines of different genotypes. We assessed parental karyotypes and identified a het...

A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa

Objective(s): Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII ...

An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.

We report familial adenomatous polyposis coli (FAPC) with epidermoid cysts, osteomata, and areas of congenital hypertrophy of the retinal pigment epithelium (CHRPEs) in a male patient and his maternal aunt, both of whom suffered a mild to moderate degree of mental handicap. Both had an interstitial deletion of the long arm of chromosome 5 (del(5)(q22q23.2)). Two other normal family members had ...