Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.

Abstract

(fig 1) there was a gerodermic facies, short stature (height 130 cm, less than the 3rd centile), a small, brachycephalic head (head circumference 46 cm, less than the 2nd centile), haemangiomas on the forehead and neck, ptosis of the right eyelid, apparent hypotelorism (inner canthal distance 2-5 cm, outer canthal distance 8-5 cm), upward slanting eyebrows, a beaked nose with hypoplastic nares, high set ears, thin lips, long philtrum, malar hypoplasia, kyphoscoliosis, low set and widely spaced nipples, and pigmented naevi, mainly on the back and abdomen. There was a repaired left inguinal hernia, small penis with hypospadias, and enlarged scrotum. The hands were small and broad with bilateral shortening of the second phalanges of the fifth fingers, more evident on the left. The feet were small with bilateral partial syndactyly of the phalanges of the third and fourth toes. He had severe mental retardation, dysarthric speech, and urinary incontinence at night.Dermatoglyphics showed the following features.

Ring chromosome 7 and sacral agenesis

“…To our knowledge, 12 cases with a ring chromosome 7 were published [Zackai and Breg, 1973;Nakano and Miyamoto, 1977;Delozier et al, 1982;Barros et al, 1986;Kohyama et al, 1988;Caramia et al, 1990;Koiffman et al, 1990;Biesecker et al, 1991;Tsukamoto et al, 1993;Sawyer et al, 1996;Wahlstrom et al, 1996]. In all cases, the karyotype was studied in lymphocytes.…”

De novo supernumerary ring chromosome 7: first report of a non‐mosaic patient and review of the literature

“…One of the most significant features present in almost all the cases with a large ring chromosome (group 2) is the presence of skin lesions. Out of the 14 cases with large ring chromosomes, 13 showed skin lesions such as vascular lesions (hemangiomas) café‐au‐lait spots and pigmented nevi (1–12, 14). Such strong association between the presence of a large ring chromosome 7 and skin lesions has led some investigators to propose a possible link between ring chromosome and malignant melanoma (17).…”

“…and in the present subject. With the exception of three patients with large ring chromosomes 7 (1, 7, 14), none of the other patients had speech difficulties reported, although most of the patients with large ring chromosomes 7 were diagnosed very early in infancy, and as such, no information was available about the speech impairment in these patients. Another significant feature reported by Tan‐Sindhunata et al.…”

Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: Association with holoprosencephaly

“…Ring chromosome 7 is a rare cytogenetic aberration with only nine reported cases [Zackai and Breg, 1973;Nakano and Miyamoto, 1977;DeLozier et al, 1982;Barros et al, 1986;Kohyama et al, 1988;Caramia et al, 1990;Koiffmann et al, 1990;Biesecker et al, 1991;Tsukamoto et al, 19931. The clinical findings associated with ring 7 are highly variable; however, most reported cases include growth and mental retardation, microcephaly, dermatological abnormalities including nevus flammeus, caf6-au-lait spots, and dark pigmented nevi.…”