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Biomedical subjects

M L BARR

Publications and source records attributed to M L BARR.

At least 19 recordsLinked to original sources
PubMed1964

THE XXYY VARIANT OF KLINEFELTER'S SYNDROME.

Three males with an XXYY sex chromosome complex are described. These patients, together with five XXYY subjects recorded in the literature, show the clinical features of Klinefelter's syndrome. Taking into consideration the findings in XYY and XXXYY individuals, it appears that the addition of a Y chromosome to XY, XXY and XXXY complexes has a variable and as yet not clearly delineated harmful effect. For example, a 44 + XXYY complement of chromosomes may prove to have significant manifestations in skeletal maturation and predispose to vascular and cutaneous abnormalities of the lower extremities in older patients. But when two Y chromosomes are present, the phenotype does not differ markedly from that resulting from the presence of a single Y chromosome in the sex chromosome complex. This finding is compatible with the view that the Y chromosome of man is relatively inert, compared with the autosomes, except for genes that function in male sex determination.

Chromosome Aberrations↗
PubMed1963

The D trisomy syndrome: a case report with a description of ocular pathology.

A male infant with trisomy of one of the 13-15, or D, group of autosomes is described. The infant survived for only a few hours and had the following congenital abnormalities: defect of the scalp and underlying vertex of the skull, hemangioma, microphthalmia, cleft palate, ulnar deviation of forearms and wrists with flexion deformity of the fingers, polydactyly of the feet, interauricular septal defect, cryptorchidism and polycystic kidneys. Retinal dysplasia was the major abnormality in the microphthalmic eye.The congenital anomalies caused by D trisomy are sufficiently characteristic for the chromosomal error to be suspected in a newborn infant. A chromosome analysis is advisable for confirmation of the diagnosis.

Abnormalities, Multiple↗
PubMed1962

The XXXXY sex chromosome abnormality.

The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical expressions of the chromosomal variants.Two male children with an XXXXY sex chromosome abnormality are described. The data obtained from the study of these cases and five others described in the literature suggest that the XXXXY patient is likely to have congenital defects not usually seen in the common form of the Klinefelter syndrome. These include a triad of (1) skeletal anomalies (including radioulnar synostosis), (2) hypogenitalism (hypoplasia of penis and scrotum, incomplete descent of testes and defective prepubertal development of seminiferous tubules), and (3) greater risk of severe mental deficiency.That the conclusions are based on data from a small number of patients is emphasized, together with the need for a cytogenetic survey of a large control or unselected population.

Child↗