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Biomedical subjects

B Say

Publications and source records attributed to B Say.

At least 55 records · Page 3Linked to original sources
PubMed1982

Immunodeficiency in children with severe craniofacial anomalies.

In immunologic studies of 20 children with severe facial birth defects, all were evaluated for quantity of T and B cells, immunoglobulins, and the third component of complement. Only 18 patients could be evaluated for blastogenesis and 16 for chemotaxis. Forty percent of the children had a decreased quantity of B cells. Eighty-three percent had a decrease in pokeweed-stimulated blastogenesis, and 75% showed decreased levels of one or more immunoglobulins. T cells were decreased in 60% of the patients, while 33% and 28% had decreased phytohemagglutinin-stimulated and concanavallin-A-stimulated blastogenesis, respectively. Chemotaxis was diminished in the polymorphonuclear leukocytes of 56% and the mononuclear leukocytes of 75% of the patients evaluated. The association of immune abnormalities and facial birth defects may be more common than in presently recognized.

Adolescent↗
PubMed1982

A homozygote for pericentric inversion of chromosome 4.

A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.

Abnormalities, Multiple↗
PubMed1982

Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

Fragile X-linked mental retardation is a recently described entity that includes a chromosomal fragile site at Xq28 and macro-orchidism. We studied 50 institutionalized males and 15 noninstitutionalized males and found six (9.2%) with this disorder. Their clinical findings include enlarged testicular volumes, low IQs (30 to 40), perseverative speech patterns, and characteristic facial features, including prominent supraorbital ridges, prognathism, and large ears. We recommend cytogenetic studies for both males and females with mental retardation of unknown origin in order to establish early diagnoses and to extend proper genetic counseling to the affected families.

Adolescent↗
PubMed1981

Familial trigonocephaly associated with short stature and developmental delay.

A family in which three male members had premature closure of the metopic suture with other suture involvement was studied. Each of the affected persons also had short stature and delayed development. The pattern of inheritance appeared to be X-linked recessive; however, the possibility of autosomal dominant inheritance with low expressivity in women could not be excluded. Findings in these patients did not fit the previously described syndromes of craniostenosis.

Abnormalities, Multiple↗
PubMed1981

An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and microcephaly among others. Dermatoglyphic studies showed an increased number of ulnar loops. More interestingly, bilateral transverse hypothenar creases were noted. Two of the reported cases also had unspecified genital abnormalities. The variation in clinical findings among these patients may be explained by a difference in the breakpoints on chromosome 17.

Abnormalities, Multiple↗
PubMed1980

Patients in a clinic for children with multiple handicaps: a retrospective diagnostic evaluation.

This study illustrates the effectiveness of an outpatient facility in evaluating patients with a variety of handicapping disorders. A multidisciplinary approach, such as the one used in the Child Study Clinic, is the most effective and most efficient mode of evaluating handicapped children, though hospitalization is occasionally required to further evaluate such complicated problems. Every child with mental retardation, birth defects, or multiple handicaps requires a thorough evaluation for the purposes of diagnosis, treatment, and the prescription of long-term educational and occupational goals. Family history often indicates the need for genetic counseling.

Abnormalities, Multiple↗
PubMed1980

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.

A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.

Adolescent↗
PubMed1980

Agenesis of the lung associated with a chromosome abnormality (46,XX,2p+).

We describe a patient with agenesis of the left lung who also had a chromosome abnormality, probably representing a duplication of the distal part of the upper arm of chromosome 2. In addition to this finding, the existence of familial cases of lung agenesis indicate that further studies are required for better understanding of the genetic aspects of this condition.

Chromosome Aberrations↗