Assignment of ABO locus to 9q31.3→qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating

Narahara, Kouji; Takahashi, Yukio; Kikkawa, Kiyoshi; Wakita, Yoshiharu; Kimura, Shunsuke; Kimoto, Hiroshi

doi:10.1007/bf01870759

Cited by 16 publications

(5 citation statements)

References 8 publications

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“…Dr. Kajii and his colleagues have studied a large kindred, in which apparently the same chromosome rearrangement as in our report (Narahara et al, 1986) is segregating, suggesting that a karyotype of inversion carriers is invins(9)(q34.3q22.3 q21.2) instead of dirins(9)(q34.3q22.1q31.3).…”

supporting

confidence: 75%

Dir ins(9)(q34.3q22.1q31.3) or inv ins(9)(q34.3q22.3q21.2)?

Narahara

1987

Jap J Human Genet

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his colleagues have studied a large kindred, in which apparently the same chromosome rearrangement as in our report (Narahara et al., 1986) is segregating, suggesting that a karyotype of inversion carriers is invins(9)(q34.3q22.3 q21.2) instead of dirins(9)(q34.3q22.1q31.3).Our reply to them is as follows: First, the two kindreds are probably related to each other, although their common ancestral origin is yet to be detected. Second, it seems very difficult to identify the precise breakpoints of such a complex rearrangement, because the short segment involved in the insertional translocation is in the region showing mirror-image banding patterns. Results of conventional G-and R-banding were compatible with either invins(9)(q34.3q22.3q21.2) or dirins(9)(q34.3q22.1q32), but analysis of chromosomes at the level of near 850 bands per haploid set suggested that dir ins(9) (q34.3q22.1q31.3) is more likely than invins(9)(q34.3q22.31q21.2). The conclusion of which interpretation is correct has to await a study of dosage effect of a gene whose locus is mapped to the region in question. Third, intrachromosomal shift is not absolutely rare, eleven cases having been described (Table 1). Of these, five cases had inverted insertion, one had direct insertion and the remaining five had insertion of unknown direction owing to the shortness of the inserted segments. In all but one (Grass et al., 1981), the three-breakpoint-rearrangements were ascertained through recombinant products. Intrachromosomal shift, inverted or direct, would yield two loops during meiosis 1, one involving the inserted segment and the other the interposing (non-insertional) segment. An odd number of crossing-over in the latter loop would result in duplication or deficiency of the inserted segment, while that in the former loop would produce various types of recombinants, depending upon

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confidence: 75%

Dir ins(9)(q34.3q22.1q31.3) or inv ins(9)(q34.3q22.3q21.2)?

Narahara

1987

Jap J Human Genet

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“…A summary of all reported cases shows that, with one exception, learning disability was found to be associated with a partial trisomy 9q (Table 1). Narahara et al (1986) described a 5-year-old female with a dup(9)(q22.1¡q31.3), whose cognitive and motor development were borderline normal (IQ=92). Taken together, this analysis of the relevant literature, including the case reported here, strongly argues that learning disability forms a characteristic phenotypical feature of partial trisomy 9q.…”

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confidence: 99%

Patient with partial trisomy 9q and learning disability but no pyloric stenosis

Hengstschläger

Prusa

Repa

et al. 2003

Dev Med Child Neurol

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Partial trisomy of the long arm of chromosome 9 represents a very rare and heterogeneous group of chromosomal aberrations. Associated clinical features include learning disability and pyloric stenosis. We present the first patient to be reported with a duplication of the chromosome region 9q22.1-->q33. The patient (female, age 17 years) presented with growth retardation, microcephaly, facial dysmorphia, oesophageal atresia, aortic stenosis, ventricular septal defect, atrial septal defect II, hypothyroidism, and learning disability, but no pyloric stenosis. A review of all cases of partial trisomy 9q reported in the literature demonstrates that learning disability is a characteristic feature of this group of chromosomal aberrations. However, there are cases of duplications of the same chromosome 9 material, with and without pyloric stenosis. This study provides new information for future genetic counselling, especially in cases of prenatal diagnosis of partial trisomy 9q.

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“…Both involved inverted insertion of a 9q segment: 9q34.1---~q34.3 in Allderdice's kindreds and 9q21.2--~q22.3 in Narahara's and our kindreds. While the ABO locus was mapped to 9q31.3-~ qter by Narahara et al (1986), our interpretation of the ins(9) chromosome indicates that it is located at 9q21.2 -~ qter. The conclusion is not contradictory to a recent report that the ABO locus maps to 9q22.1--~ q34.3 (Allderdice et al, 1985).…”

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confidence: 63%

Inverted insertion (9)(q34.3q22.3q21.2) and its recombination product: Duplication 9q21.2q22.3

et al. 1987

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Inverted Insertion (9)(q34.3q22.3q21.2) and Its Recombination Product: Duplication 9@1.2q22.3To the Editor:We read with interest a recent article in your journal by Dr. Narahara and his colleagues (1986) who described a kindred with two carriers of what they interpreted as an intrachromosomal direct shift, dir ins(9)(q34.3q22.1q31.3), and a now 9-yearold girl with a recombinant chromosome 9. It was deduced that the rec(9) in the girl resulted from crossing over at one of two loops formed during meiosis I in her carrier mother, and thus carried duplication of the 9q22.1---~q31.3 segment. The ABO locus was assigned to 9q31.3-~ qter in view of the fact that the girl was a recombinant for the locus.We studied another kindred in which an apparently identical ins(9) chromosome is segregating through five generations. Our kindred and the maternal grandfather of the proband in Narahara's kindred both live in Tokuyama, a city with a 113,000 population. It is thus likely, but yet to be proven, that the two kindreds are related with each other.Our interpretation of the ins (9) is different from Narahara's (Fig. l, upper row). It involves insertion of an inverted 9@1.2-,q22.3 segment into 9q34.3. Pairing of the inv ins(9) chromosome with a normal chromosome 9 during meiosis I in a carrier individual would produce two loops, one involving the inverted q21.2--~ q22.3 segment and the other the @2.3--+q34.3 segment (Fig. l, lower row). Odd numbers of crossing over in the latter loop would produce a recombinant chromosome with duplication of the q21.2--, q22.3 segment and one with deficiency of the same segment (Fig. 2). Family studies in our kindred disclosed three ins(9) carriers and two individuals with dup 9q21.2--,q22.3 (Fig. 3). It was deduced that both l 1-2 and 11-3, and also either I-i or I-2, were carriers of the inv ins(9) chromosome. Thus, the trait was transmitted through at least five generations.V-4, the proband in our kindred, a 2 year 2 month-old girl with dup 9q21.2 ~-, q22.3, weighed 1,874 g at birth. She walked at 15 months but did not speak meaningful words at age 2 2/12 years. She measured 76.6 cm (-3.2 SD) and weighed 8 kg (-3 SD). She had ocular hypertelorism, a short nose with a depressed nasal tip, short neck, low-set, malformed ears, fifth finger clinodactyly, absence of bilateral palmar triradii C and distally placed axial triradii. Her bone age was correspondent to her chronological age. III-5, a maternal distant relative of the proband, also carries the dup(q) chromosome. She is now 45 years old and mentally retarded, but no other details are known to us. The proband in Narahara's kindred, a 5-year-old girl with dup 9q, had a low birth weight, growth deficiency, ocular hypertelorism, and dermatoglyphic abnormalities. Her IQ was 92 and her bone age 45

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Assignment of ABO locus to 9q31.3→qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating

Cited by 16 publications

References 8 publications

Dir ins(9)(q34.3q22.1q31.3) or inv ins(9)(q34.3q22.3q21.2)?

Dir ins(9)(q34.3q22.1q31.3) or inv ins(9)(q34.3q22.3q21.2)?

Patient with partial trisomy 9q and learning disability but no pyloric stenosis

Inverted insertion (9)(q34.3q22.3q21.2) and its recombination product: Duplication 9q21.2q22.3

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