Biomedical subjects

K Fried

Publications and source records attributed to K Fried.

At least 163 records · Page 9Linked to original sources

PubMed1975

Mental retardation and congenital malformations associated with a ring chromosome 6.

A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies. He had a small head, bilateral epicanthus, broad nasal bridge, low set prominent ears, short neck and clasped thumbs. The ring chromosome was identified by the ASG banding technique.

Abnormalities, Multiple↗

PubMed1975

Ring chromosome 13 syndrome.

A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sutures. At age 4 1/2 years, she presented with mental retardation, microcephaly, asymmetrical mongoloid slanting of narrow palpebral fissures, bilateral epicanthic folds, broad and prominent nasal bridge, normal sized ears and open mouth. She had somewhat short second and fifth fingers, with a single crease on the right fifth finger and normal thumbs. This case supports previous reports that a clinically recognizable ring chromosome 13 syndrome can be defined.

Abnormalities, Multiple↗

PubMed1975

Autosomal recessive oculopharyngeal muscular dystrophy.

Oculopharyngeal muscular dystrophy is known as a rare automsomal dominant disease. A family is reported suggesting that there may be genetic heterogeneity in oculopharyngeal muscular dystrophy and that in some families the mode of inheritance may be autosomal recessive.

Adult↗

PubMed1975

A boy with 46, X, del, Y, due to a de nove mutation.

A newborn male referred for genetic investigation because of a large sized head and dysplastic ears, but with apparently normal male genitalia was found to have a deletion of all of the brightly fluorescent part of the long are of chromosome Y and absence of the Y fluorescent body on buccal smear. His father and his two brothers had normal Y chromosomes. Social and family history as well as marker investigation make illegitimacy most unlikely and leaves an occurrence of a new chromosomal mutation in the father the most probably interpretation. Follow-up of the infant to the age of 9 months revealed a large baby with normal development.

Body Height↗

PubMed1975