Prenatal diagnosis of a complex, balanced rearrangement of chromosome 7 and 14 in a healthy child with a history of preconceptual X‐ray exposure

Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping

“…Six pregnancies were pursued. Postnatal follow-ups showed two apparently normal patients at two and three years of age (Sikkema-Raddatz et al, 1995;Kohler et al, 1986). Bogart et al (1986) described a child which was phenotypically normal at birth, but showed delayed growth as well as speech development at 2.5 years of age, thus demonstrating the need for long-term follow-up in assessing the consequences of apparently balanced CCRs.…”

Prenatal finding of a fetus with mosaicism for two balancedde novo chromosome rearrangements

“…Of the 11 previous reports of de novo balanced CCRs identified prenatally none involved mosaicism and only on two did ultrasound indicate a likely abnormal outcome when IUGR was detected prenatally (Kim et al, 1986;Cotter et al, 1996). Follow-up of the remaining cases postnatally revealed that three were dysmorphic with developmental delay (Ruiz et al, 1996;Bogart et al, 1986); one had speech delay (Stoll et al, 1979) but five were clinically normal (Kohler et al, 1986;Batista et al, 1993;Sikkema-Raddatz et al, 1995;Pruggmayer et al, 1990) (Table 1). In two large surveys additional CCRs were noted but no follow-up details were given (Hook and Cross 1987;Warburton, 1991).…”

FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

“…Of the five cases with postnatal follow-up, one with a maternally transmitted rearrangement was clinically normal at birth (Bellec and de Perdigo, 1991), two were apparently normal at two and three years of age (Sikkema-Raddatz et al, 1995;Kohler et al, 1986), one had growth and speech delay (Bogart et al, 1986), and one had multiple congenital anomalies (Mercier et al, 1996). The anomalies included poorly differentiated ears, short neck, widely spaced nipples, hypospadias, bilateral hydrocele, supernumerary distal forearm crease, bilateral single palmar crease, overlapping fingers and metatarsus valgus.…”

“…Only nine cases with apparently balanced CCRs have been found through prenatal diagnosis (Kohler et al, 1986;Kim et al, 1986;Bogart et al, 1986;Bellec and de Perdigo, 1991;Batista et al, 1993;Sikkema-Raddatz et al, 1995;Delaroche et al, 1995;Mercier et al, 1996). Of these, seven rearrangements arose de novo and two were inherited from phenotypically normal mothers.…”