title: PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW.
abstract: We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocephaly, absent corpus callosum, bulbous tip of the nose, large and low set ears, macroglossia, thin upper lip, double outlet right ventricle, atria/ventricular septal defect, cleft mitral valve, pulmonary stenosis, single umbilical artery, multicystic dysplastic left kidney, sacral dimple, anterior displacement of anus, simian creases, abnormal thumb (congenital clasped thumb), overlapping toes, and congenital hypothyroidism. This is the first report of a patient with partial trisomy 4p and partial monosomy 13q.
authors.forename: S
authors.initials: S
authors.lastname: Puvabanditsin
authors.forename: G
authors.initials: G
authors.lastname: Herrera-Garcia
authors.forename: N
authors.initials: N
authors.lastname: Gengel
authors.forename: K
authors.initials: K
authors.lastname: Hussein
authors.forename: M
authors.initials: M
authors.lastname: February
authors.forename: J
authors.initials: J
authors.lastname: Mayne
authors.forename: R
authors.initials: R
authors.lastname: Mehta
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011252:Pregnancy Complications, Neoplastic / Q000188:drug therapy / Q000601:surgery*; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000235:genetics*