PMID- 17582615
OWN - NLM
STAT- MEDLINE
DCOM- 20080115
LR  - 20070903
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 27
IP  - 9
DP  - 2007 Sep
TI  - Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36.
PG  - 874-8
AB  - Deletion of the distal end of the short arm of chromosome 1 (1p36) is thought to 
      be a common terminal chromosomal deletion. However, few cases prospectively 
      diagnosed prenatally have been reported. In this case, prenatal ultrasound at 21 
      weeks of gestation noted the fetus to have mild ventriculomegaly (Vhanterior = 11 
      mm and Vhposterior = 12 mm) and increased nuchal edema (6 mm). Maternal serum 
      alpha-fetoprotein was normal unlike in a majority of previously described cases. 
      The prenatal ultrasound features were further clarified with fetal MRI. 
      Chromosome analysis following amniocentesis demonstrated a 1p36 deletion, which 
      was confirmed by fluorescence in situ hybridization (FISH). The syndrome 
      associated with 1p36 deletion is well described in infants and is characterized 
      by typical facial features (prominent forehead, straight eyebrows. deep-set eyes, 
      flat nasal bridge and a pointed chin). Other associated features are 
      neurodevelopmental delay, seizures, cardiomyopathy and neurosensory hearing 
      impairment. This case supplements our knowledge of the prenatal features of 1p36. 
      Identification of this deletion by direct chromosomal analysis can be technically 
      difficult and vigilance is required to improve diagnosis. FISH analysis is an 
      important diagnostic adjunct where the diagnosis is suspected following classical 
      G-banding techniques. However, in this chromosomal anomaly there remain few 
      characteristic prenatal signs that are readily diagnosed with prenatal imaging.
CI  - 2007 John Wiley & Sons, Ltd
FAU - Lissauer, D
AU  - Lissauer D
FAU - Larkins, S A
AU  - Larkins SA
FAU - Sharif, S
AU  - Sharif S
FAU - MacPherson, L
AU  - MacPherson L
FAU - Rhodes, C
AU  - Rhodes C
FAU - Kilby, M D
AU  - Kilby MD
LA  - eng
PT  - Case Reports
PT  - Letter
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 1
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Monosomy/*diagnosis
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 2007/06/22 09:00
MHDA- 2008/01/16 09:00
CRDT- 2007/06/22 09:00
PHST- 2007/06/22 09:00 [pubmed]
PHST- 2008/01/16 09:00 [medline]
PHST- 2007/06/22 09:00 [entrez]
AID - 10.1002/pd.1796 [doi]
PST - ppublish
SO  - Prenat Diagn. 2007 Sep;27(9):874-8. doi: 10.1002/pd.1796.