Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter)

Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter)

A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were simil...

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Veröffentlicht in:Human genetics 1978-11, Vol.44 (3), p.345-348
Hauptverfasser: Franceschini, P, Silengo, M C, Davi, G F, Santoro, M A, Prandi, G, Fabris, C
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Chromosome Deletion
Chromosomes, Human, 6-12 and X
Female
Humans
Infant, Newborn
Phenotype
Translocation, Genetic
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Zusammenfassung:A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to those in the two cases already described.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00394300