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AN INFANT WITH THE 4p- PHENOTYPE CARRYING A FAMILIAL t(4p-; 19p or q+) TRANSLOCATION
To our knowledge, no translocations between the short arm of a number 4 chromosome and a number 19 have been reported. The case presented here is...
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Karyotype with chromosomal abnormality with various inherited defects in the offspring (Recombination aneusomy)
We report the case of a family with several dysmorphic and mentally retarded children. Giemsa banding showed a pericentric inversion of chromosome...
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NEUROFIBROMATOSIS IN CHILDREN
The literature suggests that the presence of 2 of the following is necessary to diagnose neurofibromatosis (NFT): 5 or more cafe au lait spots > 0.5...
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THE CLINICAL SPECTRUM OF CONGENITAL CONTRACTURAL ARACHNODACTYLY: A CASE WITH CONGENITAL HEART DISEASE
The concept of congenital contractural arachnodactyly (CCA) as a connective tissue disorder distinct from the Marfan syndrome is extended by the...
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NON-RANDOM LATERALITY OF MALFORMATIONS IN PAIRED STRUCTURES
An evaluation of over 20,000 cases, encompassing 17 separate unilateral defects, revealed a statistically significant non-random propensity for...
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DIABETES MELLITUS, SHORT STATURE AND JOINT STIFFNESS — A NEW SYNDROME
Three unrelated patients, 2 boys 18 1/2 and 19 years old and a girl aged 17, have stable insulin-dependent diabetes mellitus, short stature and joint...
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QUANTITATIVE EVALUATION OF ABNORMAL FEATURES IN SELECTED SYNDROMES
Statements that certain syndromes are characterized by abnormal dimensions of facial features or body proportions are often subjective and lack...
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Translocation d'une partie des bras longs d'un chromosome 5 sur les bras longs d'un chromosome du groupe D (Bq-, Dq+) chez un enfant et sa mère
An autosomal translocation Bq-, Dq+ diagnosed in a girl and her mother is reported.
The proband and her mother present similary phenotypical...
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29 The Distribution of Chromosome Aberrations in Time: Chromosome Studies in Newborn and Spontaneous Abortion Populations
In a 36 month period involving 9000 newborns, three clusterings of autosomal chromosomal trisomies were recognized. Using the last menstrual period...
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27 Abnormal Organ and Cellular Growth with Various Chromosomal Disorders
It is known that newborns with a variety of chromosomal disorders are subnormal in weight for gestational age at birth but their growth disturbance...
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Cytogenetic Aspects of Brain Dysfunction
The demonstration of the normal human chromosomal complement by Tjio and Levan in 1956(1) opened a new field of human genetics, i.e., Cytogenetics....
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25 Ahaptoglobinemia in Puerto Rican Newborns
Although the frequency of ahaptoglobinemia in the newborn has been determined in Caucasians, little is known about the frequency of this condition in...
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26 Deletion of Chromosome No. 18 (Long Arm). A New Syndrome
Four unrelated examples of partial deletion of the long arm of chromosome No. 18 have been briefly reported by us (Lancet ii : 641 [1966]). These...
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28 Long-term Administration of 5-Hydroxytryptophan in Down's Syndrome
Patients with trisomy-21 Down's syndrome have been demonstrated to have a depression of whole blood 5-hydroxytryptamine (serotonin) (5HT). In older...