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1.
Endocrinologie ; 23(1): 67-72, 1985.
Article in English | MEDLINE | ID: mdl-3992159

ABSTRACT

A little girl with the Wolf-Hirschhorn syndrome showing a characteristic essential insomnia was examined clinically, genetically and hormonally. The values of arginin-vasotocin (AVT) implied in producing paradoxical sleep were normal. The relationship between AVT and insomnia is discussed.


Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, 4-5 , Child, Preschool , Chromosome Deletion , Chromosome Disorders , Female , Humans , Infant , Karyotyping , Syndrome
3.
Endocrinologie ; 18(4): 289-91, 1980.
Article in English | MEDLINE | ID: mdl-6451919

ABSTRACT

A girl with 47, XX,+21 Down's syndrome presenting labio-scrotal fusion and clitoral hypertrophy is reported. Anatomo-pathologic examination of the patient revealed the absence of the gonads and rudimentary Fallopian tubes. Botal's orifice was also present. This association, the first to be encountered so far, seems fortuitious.


Subject(s)
Chromosomes, Human, 21-22 and Y , Down Syndrome/genetics , Gonadal Dysgenesis/genetics , Chromosome Mapping , Down Syndrome/complications , Female , Humans , Infant
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