Monozygotic twins with trisomy 18: a report of discordant phenotype.

Schlessel, Jerrold S.; Brown, W. Ted; Lysikiewicz, Andrzej; Schiff, Robert; Zaslav, Ann-Leslie

doi:10.1136/jmg.27.10.640

Cited by 23 publications

(10 citation statements)

References 15 publications

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“…number of vertebrae), the severity of hearing loss and the type of cardiopathy. Similar observations were made by Mulder et al (1989) and Schlessel et al (1990) in monozygotic twins with complete trisomy 18, in several cases of 22q11 deletion (Fryer 1996;Hatchwell 1996) and in the WilliamsBeuren syndrome (Pankau et al 1993). These observations illustrate the role of "epigenetic factors" in the etiology of discordance of congenital malformations in genotypically identical twins.…”

Section: Discussionsupporting

confidence: 75%

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

et al. 1998

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We report on newborn monozygotic twins with a Noonan-like phenotype, and multiple congenital anomalies due to a monocentric recombinant chromosome 18. The mother carried a paracentric inversion of the long arm of chromosome 18, inv(18)(q21.1q22.3). Cytogenetic, fluorescent in situ hybridization, comparative genomic hybridization and DNA marker analyses allowed the delineation of the deleted (18q22.3-qter) and duplicated (18q12.1-q21.1) chromosomal regions in the recombinant chromosome 18, and suggest that this duplication-deletion chromosome 18 resulted from breakage of a dicentric recombinant chromosome 18 with subsequent reconstitution of telomeric sequences on the long arm. Marked variability is observed in the phenotypic expression of the same chromosomal anomaly in these monozygotic twins. The clinical findings of these patients are compared with those reported in proximal 18q-duplication and distal 18q-deletion patients. The clinical features of both infants are compatible with Noonan syndrome, suggesting that a locus for this syndrome may be located on the long arm of chromosome 18.

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Section: Discussionsupporting

confidence: 75%

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

et al. 1998

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“…In particular, cardiac defects, which are more common in monozygotic twins, usually affect only one of the pair [Burn and Corney, 1984]. Phenotypic discordance has been described in monozygotic twins with trisomies 13 [Naor et al, 1987] and 18 [Schlessel et al, 1990], Fryns syndrome [Vargas et al, 2000], and 22q11.2 deletion [Goodship et al, 1995;Yamagishi et al, 1998]. Several theories have been proposed to account for this, which can largely be grouped into genetic and nongenetic factors.…”

Section: Discussionmentioning

confidence: 99%

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

et al. 2002

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Alagille syndrome is an autosomal dominant disorder affecting multiple organ systems, predominantly the liver, heart, skeleton, eye, face, and kidney. The phenotype in Alagille syndrome is highly variable both within and between families. We report monozygotic twins with Alagille syndrome concordant for a mutation in Jagged1 but discordant for clinical phenotype. The twins' monozygosity was confirmed by molecular testing. A de novo splice site mutation was identified in exon 6 (1329 + 2T → G) in both children. Both twins display a severe form of Alagille syndrome; however, one twin has a severe pulmonary atresia with mild liver involvement, while the other has tetralogy of Fallot and severe hepatic involvement, which has required liver transplantation. Potential mechanisms for phenotypic variability among monozygotic twins are discussed. This is the first reported case of discordance in phenotype in monozygotic twins with Alagille syndrome. This case implies that genotypic variations alone do not explain the clinical variability seen in Alagille syndrome and supports the contributory role of nongenetic factors in phenotype determination. © 2002 Wiley‐Liss, Inc.

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“…There has been a lack of data regarding recurrence risk in trisomy 18 and trisomy 13. There have been isolated reports of trisomy 18 in twins [Mulder et al, 1989;Schlessel et al, 1990;Shah et al, 19891 and sibs [Atkins et al, 1974;Pauli et al, 1978;Shih et al, 1974;Stene and Stene, 19841. There have been many additional reports of trisomy 18 and another trisomy in sibs [Crandall and Ebbin, 1973;FitzPatrick and Boyd, 1989;Fryns et al, 1986;Girardet et al, 1972;Scarbrough et al, 1982;Turner et al, 19641.…”

Section: Recurrence Riskmentioning

confidence: 99%

Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk

Baty¹,

Blackburn²,

Carey³

1994

Am. J. Med. Genet.

264

224

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The natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionnaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C-section. Fetal distress was a factor in half, and the only reason in a third of C-section deliveries. One minute Apgar scores were significantly lower in C-section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight newborns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long-term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%.

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Monozygotic twins with trisomy 18: a report of discordant phenotype.

Cited by 23 publications

References 15 publications

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance

Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk

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