Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism

Julia G. Habecker-Green, Rizwan C. Naeem, Howard Gold, J. Patrick O'Grady, Camille Kanaan, Lucy Bayer-Zwirello, Michele S. Murray, Gabriel M. Cohn

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q.

Original languageEnglish (US)
Pages (from-to)395-398
Number of pages4
JournalJournal of Perinatology
Volume18
Issue number5
StatePublished - Sep 1998
Externally publishedYes

Fingerprint

Mosaicism
Prenatal Diagnosis
Karyotype
Polyhydramnios
Chromosomes, Human, Pair 18
Cleft Palate
Scalp
Foot
Edema
Fetus
Hand
Fibroblasts
Skin
Tetrasomy 18p Chromosome 18
Trisomy 18q Chromosome 18

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Pediatrics, Perinatology, and Child Health

Cite this

Habecker-Green, J. G., Naeem, R. C., Gold, H., O'Grady, J. P., Kanaan, C., Bayer-Zwirello, L., ... Cohn, G. M. (1998). Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism. Journal of Perinatology, 18(5), 395-398.

Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism. / Habecker-Green, Julia G.; Naeem, Rizwan C.; Gold, Howard; O'Grady, J. Patrick; Kanaan, Camille; Bayer-Zwirello, Lucy; Murray, Michele S.; Cohn, Gabriel M.

In: Journal of Perinatology, Vol. 18, No. 5, 09.1998, p. 395-398.

Research output: Contribution to journalArticle

Habecker-Green, JG, Naeem, RC, Gold, H, O'Grady, JP, Kanaan, C, Bayer-Zwirello, L, Murray, MS & Cohn, GM 1998, 'Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism', Journal of Perinatology, vol. 18, no. 5, pp. 395-398.
Habecker-Green JG, Naeem RC, Gold H, O'Grady JP, Kanaan C, Bayer-Zwirello L et al. Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism. Journal of Perinatology. 1998 Sep;18(5):395-398.
Habecker-Green, Julia G. ; Naeem, Rizwan C. ; Gold, Howard ; O'Grady, J. Patrick ; Kanaan, Camille ; Bayer-Zwirello, Lucy ; Murray, Michele S. ; Cohn, Gabriel M. / Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism. In: Journal of Perinatology. 1998 ; Vol. 18, No. 5. pp. 395-398.
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