The 49,XXXXX chromosome constitution:Similarities to the 49,XXXXY condition

A case of 49,XXXXX in which the extra X chromosomes were maternal in origin

“…The mother was 29 years old and the father was 33 years at the time of her birth, figures that are similar to previous reports. 4 5 The age of the mother is one of the contributing factors in Down's syndrome, but the influence of the mother's age on the occurrence of penta-X syndrome has not been determined.…”

Epiphysial dysplasia: a constant finding in the XXXXY syndrome.

“…This finding is in accordance with Zaleski et al (1966). However, Penrose (1967) stated that subjects with multiple X chromosome patterns have a tendency towards lower TRCs, and Sergovich et al (1971) had observed simple arch patterns on all the fingers of their patient with the XXXXX syndrome.…”

Pentasomy X with multiple dislocations

“…genua valga (our case and those reported in refs 1, 13, and 1 9 , and such foot deformities as talipes, pes equinovarus, pes valgus, pes planus, metatarsus varus [6] , metatarsus adductus [ 101 , and overlapping toes. three patients with patent ductus arteriosus [ 2 , 13,171 . Only one previous patient with a cleft palate has been described 11 51 .…”

“…The oldest girl with pentasomy X [13] had some pigmented hair on the labia majora (at 16 years), but no other secondary sex characteristics. Her uterus was small and her vaginal epithelium failed to show any estrogen effect.…”