Possible isochromosome 22 leading to trisomy 22

This report describes a full‐term male infant with trisomy 22 due to an isochromosome 22. Prenatal diagnosis with amniotic fluid showed two cell lines, one with an isochromosome 22 and the other with a deleted isochromosome 22. Subsequent cytogenetic analyses of cord blood, umbilical cord tissue, and placenta revealed additional cell lines. A normal cell line was found in umbilical cord tissue and two of three placental sites. The newborn had numerous dysmorphic features and died within 48 hrs of birth. © 2003 Wiley‐Liss, Inc.

“…There was no cleft lip, although the upper lip was carp‐shaped. The facial appearance bore a striking resemblance to the baby reported by Manasse et al [2000].…”

Section: Discussionsupporting

confidence: 53%

“…Recently, Manasse et al [2000] reported a female infant with trisomy 22 due to a possible isochromosome 22. The infant had multiple congenital abnormalities and survived for 18 months.…”

Section: Introductionmentioning

confidence: 99%

Isochromosome 22 in trisomy 22 mosaic with five cell lines

Guze

Qin

Kelly

et al. 2003

“…Here, we report a case of complete non‐mosaic trisomy 22 and review the natural history of those reported liveborn in the last 20 years [Petersen et al, 1987; Vohra et al, 1987; Voiculescu et al, 1987; Kukolich et al, 1989; Antle et al, 1990; McPherson and Stetka, 1990; Phillipson et al, 1990; Sundareshan et al, 1990; Feret et al, 1991; Kim et al, 1992; Lean et al, 1992; Kobrynski et al, 1993; Slater et al, 1993; Stratton et al, 1993; Fahmi et al, 1994; Golombek and Shaw, 1994; Nicholl et al, 1994; Bacino et al, 1995; Ladonne et al, 1996; Manasse et al, 2000]. The importance of recognizing the features of this syndrome and its natural history is highlighted so that appropriate counseling can be given at the time of diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Unexpected survival in a case of prenatally diagnosed non‐mosaic trisomy 22: Clinical report and review of the natural history

Tinkle

Walker

Blough-Pfau

et al. 2003

Over 30 cases of complete non-mosaic trisomy 22 have been reported in the literature in the last 20 years [Crowe et al., 1997: Am J Med Genet 71:406-413]. Twenty-two infants were liveborn with an average life expectancy of four days. Of these, nine survived beyond the first two weeks of life. The life span ranged from minutes to 3 years of age. We report a case of an infant diagnosed prenatally with complete non-mosaic trisomy 22. Options such as aggressive medical/surgical intervention or limiting interventions to symptomatic care including home hospice were discussed openly. Given this information, the family elected to provide minimal supportive measures with pediatric hospice. The infant lived for 2 months with her family before her death. Numerous medical and surgical complications are associated with this disorder. Both the family and the medical team must be prepared for in utero fetal demise, stillbirth, or for limited life expectancy. Proper management, therefore, depends upon an understanding of the diagnosis.

Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus

Bergeron

Tran‐Thanh

Fournet

et al. 2006

Trisomy 22 syndrome manifestations include cranial and facial anomalies. Ambiguous genitalia have been described in some fetus, but histological examination of the gonads has been rarely provided. We report here the first case of a male pseudohermaphrodite fetus with non-mosaic full trisomy 22 in amniocytes and presenting with ambiguous external genitalia, testes, and a uterus. In this case, we have further analyzed cytogenetically gonadal and uterine tissues. FISH analyses on paraffin-embedded gonads and uterus indicated the presence of two cell lines: XY and monosomy X, with 22%-50% of uterine cells having monosomy X, while 85%-100% of right and 77%-96% of left testicular cells were XY. The distribution of sex chromosomes observed in these tissues could explain the sexual differentiation observed in this fetus. On the other hand, this phenotype could also have resulted from cryptic anomalies in one or several genes implicated in sexual differentiation. Further evidence is thus needed before identifying the true cause of pseudohermaphroditism in our patient.