أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان:	Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter)
المؤلفون:	P, Franceschini, M C, Silengo, G F, Davi, M A, Santoro, G, Prandi, C, Fabris
المصدر:	Human genetics. 44(3)
سنة النشر:	1978
مصطلحات موضوعية:	Chromosomes, Human, 6-12 and X, Phenotype, Infant, Newborn, Humans, Abnormalities, Multiple, Female, Chromosome Deletion, Translocation, Genetic
الوصف:	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.
تدمد:	0340-6717
URL الوصول:	https://explore.openaire.eu/search/publication?articleId=pmid________::6978e65f23427e111bd479201705e5be https://pubmed.ncbi.nlm.nih.gov/730173
رقم الأكسشن:	edsair.pmid..........6978e65f23427e111bd479201705e5be
قاعدة البيانات:	OpenAIRE

الوصف
تدمد:	03406717