A father and daughter with fragile X chromosome.

A father and daughter with fragile X chromosome.

Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.

Cytogenetic analysis of a 4 year old girl with developmental delay and dysmorphic features showed extra chromosomal material of unknown origin on 20p (46,XX,add(20)(p13)). Familial chromosome studies showed direct inheritance of add(20)(p13) from the father, who had a similar, albeit milder, phenotype. Fibroblast chromosome studies of the father showed no karyotype mosaicism. The additional mat...

Myositis in father and daughter.

The occurrence of myositis in a father and his daughter is reported. The daughter's illness resembled childhood dermatomyositis and progressed to systemic involvement and death less than four years from the onset of symptoms. In the case of the father the illness followed the course of adult polymyositis and there was little evidence of systemic involvement. The immunological and genetic signif...

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism.

Focal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X-linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations and de novo chromosome rearrangements involving Xp...

Fox-Fordyce disease in daughter and father.

On examination, discrete 2to 3-mm perifollicular papules localized to the bilateral axillae ( fig. 1 ) and the pubic area were noted. The color of the papules ranged from flesh-colored to slightly hypopigmented. Additionally, her left axilla showed areas of superficial erosion, erythema and overlying honey-colored crust ( fig. 2 ). Of particular interest, the patient’s father was also examined ...