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Biomedical subjects

M B Katznelson

Publications and source records attributed to M B Katznelson.

At least 37 records · Page 2Linked to original sources
PubMed1987

Amniotic fluid alpha-fetoprotein levels and fetal chromosomal abnormalities.

406 midtrimester amniotic fluid samples were examined for alpha-fetoprotein (AFP) levels and fetal karyotyping. 44 cases with Down syndrome, 12 with Klinefelter syndrome and 14 with other chromosomal abnormalities were diagnosed. The AFP levels were below the median value for the normal pregnancies in 38 of the 44 Down syndrome-affected fetuses. The mean AFP value was significantly lower (p less than 0.0001) in this group. No such difference was found for fetuses affected by Klinefelter syndrome or other chromosomal aberrations. Almost all of the values for the Down syndrome-affected fetuses were, however, within the normal range, thereby precluding the possibility of using this measurement as an alternative to fetal karyotyping as a screening test for Down syndrome.

Amniotic Fluid↗
PubMed1985

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges.

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.

Abnormalities, Multiple↗
PubMed1983

Down's syndrome in twins of unlike sex.

The occurrence of Down's syndrome in both dizygotic twins appears to be very rare. A case of twins of unlike sex is reported, in which chromosomal analysis showed trisomy 21 in both of them, while the parental karyotypes were normal. This is the third reported case of such a constellation, and the second one in which infant and parental chromosomal analysis was done.

Adult↗
PubMed1982

The trisomy 4p syndrome: a case report.

Partial trisomy of the short arm of chromosome 4 is considered to be a rare chromosomal disorder. Its clinical and dermatoglyphic features tend to make it a clinically recognizable syndrome. This paper describes a 2 year-old female child with the characteristic findings of frontal bossing, deep-set eyes, broad nasal bridge giving the appearance of hypertelorism, wide nares, midfacial hypoplasia, large dysplastic ears, prognathism and various hand and foot malformations. Chromosomal studies showed her to be trisomic for the distal two-thirds of the short arm of number 4. The etiology of this chromosomal aberration in most instances is unknown, but may occur as a result of an unbalanced translocation in one of the parents as in the case reported here.

Child, Preschool↗
PubMed1982

Fetal dermatoglyphics.

Dermatoglyphic studies were performed on 24 aborted human embryos in whom major chromosomal aberrations had been revealed by amniocentesis. Prints were obtained from the embryos by the Hollister method. An analysis was done using patterns on finger tips and the atd angle was measured in degrees. The Penrose classification was used to describe the locations of the various palm and foot patterns. Twenty-two out of the 24 embryos showed dermatoglyphic deviations that correlated well with the cytogenetic diagnosis. The fetuses had the following disorders: 7 with trisomy 21, 2 with trisomy 18, 2 with trisomy 13, 3 with structural autosomal aberrations and 10 had a sex-chromosome aberration.

Abortion, Legal↗
PubMed1982

Dermatoglyphics of Jewish Down patients.

Two Jewish groups with Down Syndrome were studied, and were found to be similar. The findings were compared with those obtained by various investigators for British D.S. and British controls (Penrose, 1954; Holt, 1964, 1968; Penrose and Smith, 1966; Smith and Berg, 1976). (Table 10). Digital, palmar and plantar parameters were studied. Inspite of the significant ethnic differences existing between the two control populations, the Jews and the Britons, the Jewish patients with Down Syndrome manifest a uniformity of dermatoglyphic characteristics as do the British patients (Table 11). These typical dermatoglyphic characteristics are superimposed on the ethnic differences. It seems that Down Syndrome has any features in common the world over, but the details of the differences are important for each ethnic group, and should not be neglected.

Adolescent↗
PubMed1981

Symphalangism with multiple anomalies of the hands and feet: a new genetic trait.

We report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.

Adult↗
PubMed1979

Lipoid proteinosis (Urbach-Wiethe syndrome).

A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.

Adolescent↗
PubMed1976

Congenital malformations in four siblings of a mother taking anticonvulsant drugs.

Four siblings have various congenital malformations attributable to the teratogenic effect of anticonvulsant drugs. Their mother has 23-year history of continuous medication for seizures. Since the malformations noted in her four offspring are more extensive and severe in each subsequent child, the question arises as to the possible cumulative effect of antiepileptic drugs in producing congenital malformations. The observations in this family strongly support the need to carefully evaluate all offspring of mothers receiving anticonvulsant drugs.

Abnormalities, Drug-Induced↗
PubMed1976

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.

Adult↗
PubMed1976

The inheritance of fingerprint patterns.

Analysis of the fingerprints of 571 members of the Habbanite isolate suggest inherited patterns and pattern sequences. A genetic theory has been developed; it assumes that the basic fingerprint pattern sequence is all ulnar loops and that a variety of genes cause deviations from this pattern sequence. Genes that have been proposed include: (1) a semidominant gene for whorls on the thumbs (one homozygote has whorls on both thumbs, the other has ulnar loops on both thumbs and the heterozygote usually has two ulnar loops or one ulnar loop and one whorl); (2) a semidominant gene for whorls on the ring fingers which acts like the gene for whorls on the thumbs; (3) a dominant gene for arches on the thumbs and often on other fingers; (4) one or more dominant genes for arches on the fingers; (5) a dominant gene for whorls on all fingers except for an ulnar loop on the middle finger; (6) a dominant gene for radial loops on the index fingers, frequently associated with an arch on the middle fingers; and (7) a recessive gene for radial loops on the ring and little fingers. These genes may act independently or may show epistasis.

Dermatoglyphics↗