Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.
Sebold
Courtney
C
Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Roeder
Elizabeth
E
Zimmerman
Marsha
M
Soileau
Bridgette
B
Heard
Patricia
P
Carter
Erika
E
Schatz
Martha
M
White
W Abraham
WA
Perry
Brian
B
Reinker
Kent
K
O'Donnell
Louise
L
Lancaster
Jack
J
Li
John
J
Hasi
Minire
M
Hill
Annice
A
Pankratz
Lauren
L
Hale
Daniel E
DE
Cody
Jannine D
JD
D000015:Abnormalities, Multiple / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D058670:Tetrasomy