Jacobsen syndrome

A multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 2

                       


(per page)
PMID (PMCID)
24035971
 FEMALE Infant
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP.
Eur J Med Genet. 2013;56(11):626-34.
Hereby, we describe a 18 months old girl presenting with trigonocephaly and dysmorphic facial features, including hypotelorism, broad depressed nasal bridge, micrognathia, synophrys, epicanthal folds, and with a stage 4 neuroblastoma without MYCN amplification, carrying a germline 11q deletion (11q14.1-q22.3), outside from Jacobsen syndrome and from neuroblastoma 11q critical regions.
11043435
 MALE
A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.
Matheisel A, Babinska M, Wierzba J, Wozniak A, Nedoszytko B, Balcerska A, Limon J.
Genet Couns. 2000;11(3):267-71.
Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia.