Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)

Autor:	Graciela Del Rey, Roberto Coco, Silvia Copelli, J J Heinrich
Rok vydání:	1995
Předmět:	Multiple abnormalities Genetics Breakpoint Karyotype Anatomy Biology Synostosis medicine.disease Long arm Low birth weight Chromosome 4 Hypoplastic nails otorhinolaryngologic diseases medicine medicine.symptom Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 55:77-79
ISSN:	1096-8628 0148-7299
Popis:	Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::5daee56647d521cc33a0c30da84c6b3e https://doi.org/10.1002/ajmg.1320550120 Zobrazit plný text záznamu Plný text