PMID- 21600320
OWN - NLM
STAT- MEDLINE
DCOM- 20111031
LR  - 20110711
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 54
IP  - 4
DP  - 2011 Jul-Aug
TI  - A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech 
      problems, autistic traits, dysmorphic features and multiple endocrine neoplasia 
      type 1.
PG  - e461-4
LID - 10.1016/j.ejmg.2011.04.006 [doi]
AB  - We report a 21-year-old patient with speech problems, autistic traits, dysmorphic 
      facial features, broad thumbs with short distal phalanges and a pancreatic 
      gastrinoma. Array-CGH demonstrated a 0.57 Mb de novo deletion in chromosome 
      11q13.1. The deleted region contains several genes which likely contribute to the 
      patient's complex phenotype, including the MEN1 gene. The deletion of the MEN1 
      gene is causing multiple endocrine neoplasia type 1 (MEN1). The 
      neurodevelopmental phenotype of the patient might be associated with the deletion 
      of the genes NRXN2 and PPP2R5B which have been described to be involved in 
      synaptogenesis and dendritic branching. According to our knowledge, we report for 
      the first time a patient with the combination of a neurodevelopmental phenotype 
      and MEN1 caused by a microdeletion on chromosome 11.
CI  - Copyright (c) 2011 Elsevier Masson SAS. All rights reserved.
FAU - Mohrmann, Inga
AU  - Mohrmann I
FAU - Gillessen-Kaesbach, Gabriele
AU  - Gillessen-Kaesbach G
FAU - Siebert, Reiner
AU  - Siebert R
FAU - Caliebe, Almuth
AU  - Caliebe A
FAU - Hellenbroich, Yorck
AU  - Hellenbroich Y
LA  - eng
PT  - Case Reports
PT  - Letter
DEP - 20110429
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - Chromosome 11q partial deletion
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Adult
MH  - Autistic Disorder/diagnosis/*genetics
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Phenotype
MH  - Speech Disorders/diagnosis/*genetics
MH  - Young Adult
EDAT- 2011/05/24 06:00
MHDA- 2011/11/01 06:00
CRDT- 2011/05/24 06:00
PHST- 2011/01/27 00:00 [received]
PHST- 2011/04/14 00:00 [accepted]
PHST- 2011/05/24 06:00 [entrez]
PHST- 2011/05/24 06:00 [pubmed]
PHST- 2011/11/01 06:00 [medline]
AID - S1769-7212(11)00058-9 [pii]
AID - 10.1016/j.ejmg.2011.04.006 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2011 Jul-Aug;54(4):e461-4. doi: 10.1016/j.ejmg.2011.04.006. Epub 
      2011 Apr 29.