PMID- 10450869
OWN - NLM
STAT- MEDLINE
DCOM- 19990928
LR  - 20220331
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 6
DP  - 1999 Jun
TI  - A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan 
      anemia associated with macrocephaly, hypotonia, and psychomotor retardation.
PG  - 487-92
AB  - We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan 
      anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a 
      broad and tall forehead, medial epicanthus, and facial hypotonia with 
      mouth-breathing and drooling, an affable and out-going personality, and a general 
      psychomotor retardation. These features show similarity to the phenotype of the 
      X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy 
      underwent treatment with transfusion and with prednisolone. He had a normal 46, 
      XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase 
      chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has 
      previously been linked to the DBA phenotype and one 19q13 microdeletion has been 
      identified in a patient with DBA. This deletion coincides with the deletion 
      reported here. We suggest that the complex phenotype of our patient, including 
      both DBA and the associated features, represent a microdeletion syndrome.
FAU - Cario, H
AU  - Cario H
AD  - Department of Pediatrics, University Children's Hospital Ulm, Germany. 
      holger.cario@medizin.uni-ulm.de
FAU - Bode, H
AU  - Bode H
FAU - Gustavsson, P
AU  - Gustavsson P
FAU - Dahl, N
AU  - Dahl N
FAU - Kohne, E
AU  - Kohne E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 19
MH  - Erythropoiesis
MH  - Fanconi Anemia/diagnostic imaging/*genetics/physiopathology
MH  - Humans
MH  - Hypertelorism/etiology
MH  - Infant
MH  - Intellectual Disability/etiology
MH  - Male
MH  - Psychomotor Disorders/etiology
MH  - Radiography
MH  - Syndrome
EDAT- 1999/08/18 00:00
MHDA- 1999/08/18 00:01
CRDT- 1999/08/18 00:00
PHST- 1999/08/18 00:00 [pubmed]
PHST- 1999/08/18 00:01 [medline]
PHST- 1999/08/18 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550616.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jun;55(6):487-92. doi: 10.1034/j.1399-0004.1999.550616.x.