Biomedical subjects

K Naritomi

Publications and source records attributed to K Naritomi.

65 records · Page 4Linked to original sources

PubMed1988

Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.

A 16-day-old girl with Zellweger syndrome and a chromosomal rearrangement, 46,XX,del(7)(q11.22q11.23), is reported. The diagnosis was confirmed by marked deficiencies of peroxisomal beta-oxidation enzymes and dihydroxyacetone phosphate acyltransferase activities in rectal cells and fibroblasts obtained by biopsy and in hepatic cells obtained at autopsy. This is the first report of Zellweger syndrome associated with a chromosomal arrangement, a microdeletion of chromosome 7. A tentative gene assignment to 7q11 is suggested.

Chromosome Banding↗

PubMed1988

Determination of the breakpoints and the parental origin of a ring 22 chromosome: an analysis by high-resolution banding technique, quinacrine and silver stainings.

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Abnormalities, Multiple↗

PubMed1988

Apert syndrome with partial polysyndactyly: a proposal on the classification of acrocephalosyndactyly.

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Acrocephalosyndactylia↗

PubMed1988

16q21 is critical for 16q deletion syndrome.

A 1-year-old girl with an interstitial deletion of the long arm of chromosome 16 is reported. She was characterized by a distinct craniofacial dysmorphism, meningoencephalocele, mild hydrocephalus, short neck, broad great toes and abnormally positioned toes. High resolution GTG and RBG banding analyses revealed a karyotype: 46,XX,del(16) (q13q22) de novo. An analysis of the smallest region of overlap revealed that the critical band region for 16q deletion syndrome is 16q21.

Abnormalities, Multiple↗

PubMed1988