Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals

Courtney Sebold, Elizabeth Roeder, Marsha Zimmerman, Bridgette Soileau, Patricia Heard, Erika Carter, Martha Schatz, W. Abraham White, Brian Perry, Kent Reinker, Louise O'Donnell, Jack Lancaster, John Li, Minire Hasi, Annice Hill, Lauren Pankratz, Daniel E. Hale, Jannine D. Cody

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2164-2172
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number9
DOIs
StatePublished - Sep 1 2010

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Chromosomes, Human, Pair 18
Medical Records
Neonatal Jaundice
Meningomyelocele
Microcephaly
Kyphosis
Cryptorchidism
Refractive Errors
Strabismus
Otitis Media
Scoliosis
Constipation
Hernia
Gastroesophageal Reflux
Karyotype
Hearing Loss
Growth Hormone
Tetrasomy 18p Chromosome 18
Foot
Seizures

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Sebold, C., Roeder, E., Zimmerman, M., Soileau, B., Heard, P., Carter, E., ... Cody, J. D. (2010). Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals. American Journal of Medical Genetics, Part A, 152(9), 2164-2172. https://doi.org/10.1002/ajmg.a.33597
Sebold, Courtney ; Roeder, Elizabeth ; Zimmerman, Marsha ; Soileau, Bridgette ; Heard, Patricia ; Carter, Erika ; Schatz, Martha ; White, W. Abraham ; Perry, Brian ; Reinker, Kent ; O'Donnell, Louise ; Lancaster, Jack ; Li, John ; Hasi, Minire ; Hill, Annice ; Pankratz, Lauren ; Hale, Daniel E. ; Cody, Jannine D. / Tetrasomy 18p : Report of the molecular and clinical findings of 43 individuals. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 9. pp. 2164-2172.
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Sebold, C, Roeder, E, Zimmerman, M, Soileau, B, Heard, P, Carter, E, Schatz, M, White, WA, Perry, B, Reinker, K, O'Donnell, L, Lancaster, J, Li, J, Hasi, M, Hill, A, Pankratz, L, Hale, DE & Cody, JD 2010, 'Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals', American Journal of Medical Genetics, Part A, vol. 152, no. 9, pp. 2164-2172. https://doi.org/10.1002/ajmg.a.33597

Tetrasomy 18p : Report of the molecular and clinical findings of 43 individuals. / Sebold, Courtney; Roeder, Elizabeth; Zimmerman, Marsha; Soileau, Bridgette; Heard, Patricia; Carter, Erika; Schatz, Martha; White, W. Abraham; Perry, Brian; Reinker, Kent; O'Donnell, Louise; Lancaster, Jack; Li, John; Hasi, Minire; Hill, Annice; Pankratz, Lauren; Hale, Daniel E.; Cody, Jannine D.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 9, 01.09.2010, p. 2164-2172.

Research output: Contribution to journalArticle

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T2 - Report of the molecular and clinical findings of 43 individuals

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AU - Zimmerman, Marsha

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AU - Heard, Patricia

AU - Carter, Erika

AU - Schatz, Martha

AU - White, W. Abraham

AU - Perry, Brian

AU - Reinker, Kent

AU - O'Donnell, Louise

AU - Lancaster, Jack

AU - Li, John

AU - Hasi, Minire

AU - Hill, Annice

AU - Pankratz, Lauren

AU - Hale, Daniel E.

AU - Cody, Jannine D.

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