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B1 DELETION SYNDROME [1 record]
Record 1 - internal organization data 1981-04-21
Record 1, English
Record 1, Subject field(s)
- Histology
Record 1, Main entry term, English
- cri du chat syndrome 1, record 1, English, cri%20du%20chat%20syndrome
Record 1, Abbreviations, English
Record 1, Synonyms, English
- cat cry syndrome 1, record 1, English, cat%20cry%20syndrome
- crying cat syndrome 1, record 1, English, crying%20cat%20syndrome
- deletion of short arm of chromosome 5 1, record 1, English, deletion%20of%20short%20arm%20of%20chromosome%205
- B1 deletion syndrome 1, record 1, English, B1%20deletion%20syndrome
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A hereditary congenital syndrome characterized by hypertelorism, microcephaly, severe mental deficiency, and a plaintive catlike cry, due to deletion of the short arm of a chromosome (4 or 5) of the B group. 1, record 1, English, - cri%20du%20chat%20syndrome
Record number: 1, Textual support number: 1 CONT
Deletions of the short arms of both the early and late replicating pair have been reported, and evidence suggests that the cri du chat syndrome ... results from a substantial deficiency of genetic material in the short arms of the shorter early-replicating chromosome pair (No 5). 1, record 1, English, - cri%20du%20chat%20syndrome
Record 1, French
Record 1, Domaine(s)
- Histologie
Record 1, Main entry term, French
- syndrome du cri du chat
1, record 1, French, syndrome%20du%20cri%20du%20chat
masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- syndrome de Lejeune 1, record 1, French, syndrome%20de%20Lejeune
see observation, masculine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Syndrome décrit chez le nourrisson [...] et caractérisé par : 1) des anomalies morphologiques comprenant une microcéphalie, un hypertélorisme avec épicanthus, une implantation basse des oreille, un micro- et un rétrognathisme; 2) une arriération mentale profonde; 3) une consonance particulière du cri comparable au cri du chat; 4) des anomalies dermatoglyphiques à savoir un triradius palmaire en position t' et un équivalent du pli palmaire transverse unique; 5) une aberration chromosomique caractérisée par une amputation de la moitié environ des bras courts d'un chromosome 4-5. 1, record 1, French, - syndrome%20du%20cri%20du%20chat
Record number: 1, Textual support number: 1 CONT
Ce symptôme est tellement typique pour le tableau pathologique, que Lejeune et Coll. ont préconisé la dénomination assez triviale de «syndrome du cri du chat». 1, record 1, French, - syndrome%20du%20cri%20du%20chat
Record number: 1, Textual support number: 1 OBS
«syndrome de Lejeune» : Syndrome (plurimalformatif) de Lejeune 1, record 1, French, - syndrome%20du%20cri%20du%20chat
Record 1, Key term(s)
- syndrome plurimalformatif de Lejeune
Record 1, Spanish
Record 1, Textual support, Spanish
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