Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations

Abstract

We report on two sibs with duplication of the segment 8q12----8q21.2 resulting from malsegregation of a maternal insertional translocation: [inv ins (5;8)(p13;q12q21.2)]. The mother also carries a reciprocal translocation [t(1;6)(q31;q5)], which was transmitted in the balanced state to the propositi and to a phenotypically normal son and daughter. The literature on two translocations occurring in one individual and on insertional rearrangements is reviewed in terms of reproductive risks to balanced carriers. The two affected infants have a previously undescribed partial duplication of an interstitial segment of 8q and a pattern of abnormalities distinct from those seen in other partial duplications of 8. These infants are reviewed with 78 other cases of partial duplications of chromosome 8 with regard to phenotype-karyotype correlations.

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

“…This identification has finally allowed some degree of closure with respect to the original studies over 15 years ago, thus allowing us to provide more specific prognostic implications and information to the family. This study supports the observation that the characteristics of mosaic trisomy 8 syndrome cannot be correlated to particular duplicated regions of chromosome 8 [Walker and Bocian, 1987]. The phenotypic variability of this syndrome is extensive [Kurytka et al, 1988] and it is difficult to predict physical growth and development when a der(8) marker chromosome is detected.…”

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INTRODUCTIONPartial trisomy 8 is associated with a phenotype that resembles full trisomy 8 syndrome and comprises a long face, thick everted lower lip, high protruding forehead, deep palmar and plantar skin furrows, abnormal toe posture, hypoplastic or absent patellae, and renal, vertebral, genital, and urethral abnormalities [Fineman et al, 1979;Walker and Bocian, 1987]. We report on a family in which the father and 2 daughters carry a supernumerary marker chromosome [Chudley et al, 1983] identified as a der(8) with fluorescence in situ hybridization (FISH).

CLINICAL REPORT

The oldest daughter (III-1 [Chudley et al, 1983]) was born with a right duplicated thumb.

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Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia: A newly defined syndrome

“…Our patient also clearly has micrognathia and zygomatic arch malformations, findings seen in patients with Treacher Collins, Nager, and Miller syndromes, 8q22 cytogenetic rearrangements, mandibuloacral dysplasia [Toriello, 1982b], and YunisVaron syndrome but not those with cleidocranial dysplasia [Partington, 1982]. Micrognathia has been reported in over 130 syndromes and 47 chromosomal anomalies [Stevenson et al, 1993], including non-CCHA patients with partial duplications of chromosome 8 [Walker and Bocian, 1987].…”

“…The phenotype associated with CBF␣1 mutations has been well documented. A review of the phenotypic correlations in more than 80 patients with various partial duplications of 8q [Walker and Bocian, 1987] showed abnormal skull shape with prominent forehead, hypertelorism or telecanthus, long philtrum, broad nasal root, cardiac lesions, various vertebral and rib abnormalities, broad, short neck, renal malformations, camptodactaly, brachydactaly, micrognathia, and higharched or cleft palate. This review included 2 siblings with duplication of the segment 8q12-8q21.2 and mild micrognathia, high or posterior cleft palate, telecanthus, mild microcephaly, severe developmental delays, and cardiac malformations; both died at age 4 months.…”

Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation

“…Involvements of the 8qll-q12 region in chromosome aberrations have been reported many times. They were often associated with various diseases, such as acute lymphoid leukemia (Testoni et aL, 1993), malignant lymphoma (Huret et aL, 1990), salivary gland pleomorphic adenoma and carcinoma (Bullerdiek et al, 1993;Jin et al, 1994), lymphoblastoma (Sawyer et al, 1994), Silver-Russell syndrome-like features (Schinzel et aL, 1994) and another congenital anomaly (Walker and Bocian, 1987). There must be in this region some disease-related genes other than HYRC (Kirchgessner et aL, 1995;Blunt et aL, 1995;Lees-Miller et aL, 1995) and C/EBP0" (Cleutjens et al, 1993;Kirchgessner Jpn J Human Genet et aL, 1995).…”