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Article
Heterozygous TGFBR2 mutations in Marfan syndrome
Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin (FBN1) at 15q21.1 (ref. 1). ...
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Article
Possible map** of the gene for transient myeloproliferative syndrome at 21q11.2
The parental origin of the extra chromosome 21 was studied in 20 patients with trisomy 21-associated transient myeloproliferative syndrome (TMS) using chromosomal heteromorphisms as markers; this was combined ...
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Article
Cell type-dependent difference in the distribution and frequency of excess thymidine-induced common fragile sites: T lymphocytes and skin fibroblasts
Common fragile sites were induced by excess thymidine in phytohemagglutin-stimulated T lymphocytes from 4 normal individuals, and skin fibroblasts from 4 normal and 5 fra(X) positive individuals. The results i...
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Article
Cell type-dependent difference in the distribution and frequency of aphidicolin-induced fragile sites: T and B lymphocytes and bone marrow cells
The distribution and frequency of aphidicolin-induced common fragile sites were studied in Epstein-Barr virus-transformed B lymphocytes from eight normal individuals, and in bone marrow cells from six children...
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Article
Disomic homozygosity in 21-trisomic cells: a mechanism responsible for transient myeloproliferative syndrome
Nine patients with transient myeloproliferative syndrome (TMS) with or without Down syndrome (DS) phenotype were studied cytogenetically, particularly with regard to the origin of trisomy 21. Of six DS patient...
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Article
Incontinentia pigmenti and X-autosome translocations
Incontinentia pigmenti (IP) is a rare X-linked disease with marked female-to-female transmission and a dominant pattern of inheritance. Reports of six unrelated females with IP and X-autosomal translocations, ...
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Article
A disease with features of cutis laxa and Ehlers-Danlos syndrome
A mother and daughter are described with light and electron microscopic, and biochemical abnormalities of their connective tissue characteristic of both cutis laxa and the Ehlers-Danlos syndrome. The mother wa...
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Article
Neutrophil Adhesion Abnormality with Deficient Surface Membrane Proteins (gp 110 and p 98): The Effect of their Antibodies on the Function of Normal Neutrophils
ABSTRACT. A sister and brother previously described with neutrophil adhesion defects and a lack of two neutrophil membrane proteins, glycoprotein with a molecular weight of 110 K and 115 K, were further studie...
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Article
Replication of X chromosomes in complete moles
DNA replication patterns of X chromosomes in complete hydatidiform moles were studied using cultured fibroblasts from three 46,XX moles resulting from duplication of a haploid sperm, and from a 46,XY mole orig...
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Article
Dispermic origin of XY hydatidiform moles
Complete hydatidiform mole is an abnormal human pregnancy with grossly swollen chorionic villi, usually with a 46,XX karyotype, and with a propensity to malignancy1. The XX moles originate from fertilization of a...
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Article
Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2
A family with five induced and seven spontaneous abortions and no live births is described. Four of the seven spontaneous abortuses were available for cytogenetic examination and three were successfully karyot...
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Article
Anatomic and chromosomal anomalies in 944 induced abortuses
A total of 944 induced abortuses, 922 of which apparently were anatomically normal and 22 of which were anatomically abnormal, were set up in culture. Of these abortuses, 910 (96.4%) were successfully karyotyp...
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Article
Androgenetic origin of hydatidiform mole
CLASSIC hydatidiform mole is the product of an abnormal pregnancy with grossly swollen chorionic villi, but without an embryo, cord or amniotic membrane. Histologically, the villi are characterised by advanced...
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Article
ASSOCIATION OF TRIPHALANGEAL THUMBS, CAFE AU LAIT SPOTS AND LEUKEMIA
Triphalangeal thumbs (TrTh) have been linked with 3 syndromes involving bone marrow dysfunction: Fanconi pancytopenia and Blackfan-Diamond (both autosomal recessive) and Aase-Smith (? X-linked recessive). The ...
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Article
Origin of acrocentric trisomies in spontaneous abortuses
A total of 33 spontaneous abortuses with various acrocentric trisomies were studied for the origin of the extra chromosomes using Q- and R-band polymorphisms as markers. Eleven trisomic abortuses were informat...
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Article
Sequential Q- and acridine orange-marker technique
A standardized Q- and acridine orange (AO)-fluorescence dual marker technique was described. It involved preservation of unstained chromosome slides in a vacuum desiccator up to 18 months, Q-staining, destaini...
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Article
A triploid human abortus due to dispermy
Fluorescence and C-banding marker analyses of a 69,XXY triploid abortus and its parents revealed pericentric inversion in a No. 4 chromosome in the father, which was transmitted to two No. 4 chromosomes in the...
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Article
Monosomy 21 in spontaneous abortus
Chromosome analysis of the amnion from a missed abortus revealed a 45,XX,G-karyotype. Giemsa banding pattern technique identified the chromosome involved in monosomy as No. 21.
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Article
Trisomy 14 in spontaneous abortus
Chromosome analysis of the amnion from a spontaneous abortus revealed a 47,XX,D+karyotype. Giemsa banding pattern technique identified the extra chromosome as a No. 14.
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Article
Concordant metaphyseal dysostosis type Schmid in identical twins
Metaphyseal dysostosis type Schmid has been described in identical twin girls. It was concluded that the concordant occurrence of the disease in the twins was the result of a fresh autosomal dominant mutation.
