PMID- 18814345
OWN - NLM
STAT- MEDLINE
DCOM- 20081113
LR  - 20191027
IS  - 0300-8630 (Print)
IS  - 0300-8630 (Linking)
VI  - 220
IP  - 5
DP  - 2008 Sep-Oct
TI  - [Muscular hypotonia, developmental retardation, speech delay and mildly 
      dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an 
      important differential diagnosis].
PG  - 318-20
AB  - BACKGROUND: Clarifying the cause of global developmental and speech delay is of 
      considerable significance in pediatrics. We present the clinical phenotype of the 
      22q13 deletion syndrome - also known as Phelan-McDermid syndrome - and show the 
      diagnostic options. PATIENT: We report on a female patient with muscular 
      hypotonia, tall stature, minor facial dysmorphism, retarded motor and mental 
      development, and severe speech delay. METHOD: Chromosomal analysis was performed 
      first on peripheral lymphocytes on GTG-banded chromosomes. Fluorescence in situ 
      hybridization (FISH) analysis was carried out using the dual-color LSI 
      DiGeorge/VCFS Region Probe (TUPLE1, N25) (Vysis/Abbott) and the subtelomeric 
      probe tel 22q13.3 (Tel Vysion 22q). RESULTS: The analysis of metaphase 
      chromosomes at 450 band resolution showed a normal female karyotype 46,XX. FISH 
      analysis revealed a 22q13 deletion. CONCLUSION: Muscular hypotonia and 
      developmental delay are non-specific findings observed in many genetic syndromes. 
      In association with severe speech delay and normal or advanced growth 
      pediatricians should consider 22q13 deletion syndrome as a potential cause and 
      initiate a genetic examination.
FAU - Strenge, S
AU  - Strenge S
FAU - Froster, U G
AU  - Froster UG
FAU - Kujat, A
AU  - Kujat A
FAU - Bernhard, M
AU  - Bernhard M
FAU - Merkenschlager, A
AU  - Merkenschlager A
LA  - ger
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
TT  - Muskulare Hypotonie, Entwicklungsretardierung, Sprachentwicklungsstorung und 
      geringgradige Dysmorphiezeichen: 22q13-Deletions-Syndrom 
      (Phelan-McDermid-Syndrom) als wichtige Differenzialdiagnose.
PL  - Germany
TA  - Klin Padiatr
JT  - Klinische Padiatrie
JID - 0326144
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Developmental Disabilities/diagnosis/*genetics
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Language Development Disorders/diagnosis/*genetics
MH  - Muscle Hypotonia/diagnosis/*genetics
MH  - Phenotype
MH  - Syndrome
EDAT- 2008/09/25 09:00
MHDA- 2008/11/14 09:00
CRDT- 2008/09/25 09:00
PHST- 2008/09/25 09:00 [pubmed]
PHST- 2008/11/14 09:00 [medline]
PHST- 2008/09/25 09:00 [entrez]
AID - 10.1055/s-2007-977733 [doi]
PST - ppublish
SO  - Klin Padiatr. 2008 Sep-Oct;220(5):318-20. doi: 10.1055/s-2007-977733.