- Alfi O S, Donnell G N, Kramer S L: Partial trisomy of the long arm of chromosome No. 7. J. Med. Genet. 10:187-189, 1973. [PMC free article: PMC1013015] [PubMed: 4714589]46,XY,t(7;14)(q31;q32).,46,XY,der(14)t(7;14)(q31;q32)pat.,46,XY,der(14)t(7;14)(14pter->14q32::7q31->7qter)pat.Aberration: Simple translocationPositive band
- Berger R, Turc C, Wachter H, Begue G: Partial 7q trisomy. Clin. Genet. 11:39-42, 1977. [PubMed: 830447]Individual IV-7 (C.D. 170273) in the pedigree.46,XX,der(9)t(7;9)(q31;p24)mat.,46,XX,der(9)t(7;9)(9qter->9p24::7q31->7qter).,It is suggested that trisomy for region 7q31->7qter would result in a syndrome characterized by low birth weight, growth retardation, abnormal cranial shape (prominent occiput, frontal bossing), horizontal and narrow palpebral slants, cleft palate, microretrognathia, low-set ears, anomalies of muscular tone and psychomotor retardation. Trisomy for region 7q21 or 7q22->7q31 would be related to a syndrome including narrow palpebral slant, epicanthal folds, flattened nasal bridge, absence of retrognathia and of cleft palate, muscular tone abnormalities and psychomotor retardation without growth retardation.Individuals III-6, III-8 and IV-8 in the pedigree.46,XX,t(7;9)(q31;p24).Aberration: Simple translocationIndex Terms: Cleft lip/palate,Ears ... accessory,Epicanthal folds,Microretrognathia,Muscles ... anomalies,Occiput ... prominent,Palpebral fissures ... narrowPositive band
- Bieche I, Champeme M H, Matifas F, Hacene K, Callahan R, Lidereau R: Loss of heterozygosity on chromosome 7q and aggressive primary breast cancer. Lancet 339:139-143, 1992. [PubMed: 1346009]Aberration: Interstitial deletionMIM#: 211410Chromosomal Aneuploidy: 7q-Index Terms: Breast ... cancerPositive band
- Same entry as in 02p110,03p240,05q140 (Boue and Gallano, 1984).
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(7;8)(q31;q24).Aberration: Reciprocal translocationPositive band
- Carter N P, Ferguson-Smith M A, Perryman M T, Telenius H, Pelmear A H, Leversha M A, Glancy M T, Wood S L, Cook K, Dyson H M, Ferguson-Smith M E, Willatt L R: Reverse chromosome pairing: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J. Med. Genet. 29:299-307, 1992. [PMC free article: PMC1015948] [PubMed: 1583656]Case 3.46,XX,t(7;21)(q31;q22).Aberration: Reciprocal translocationPositive band
- De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]t(7;17)(q31;q25).Aberration: Reciprocal translocationPositive band
- Folstein S E, Mankoski R E.: Chromosome 7q: where autism meets language disorder? AJHG 67:278-281, 2000. [PMC free article: PMC1287175] [PubMed: 10889044]An invited editorial puts these developments in good perspective.
Lai C S L, Fisher S E, Hurst J A, Levy E R, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison D C, Green E D, Varrgha-Khadem F, Monaco A P.: The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. AJHG 67:357-368, 2000. [PMC free article: PMC1287211] [PubMed: 10880297]Patient CS was a 5-year-old boy with language impairment and verbal dyspraxia.46,XY,t(5;7)(q22;q31.2)de novoThe breakpoint was mapped in the D7S2459-D5S643 interval.Aberration: Reciprocal translocationMIM#: 602081 - Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J.: A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. AJHG 68:247-253, 2001, DOI-0002-9297/2001/6801. [PMC free article: PMC1234921] [PubMed: 11112662]The matUPD7 segment at 7q31-qter extends for 35 Mb and includes the imprinted gene cluster of PEG1/MEST and delta2-COP at 7q32.A patient with SRS was identified in a systematic screening with microsatellite markers.Aberration: Uniparental disomyMIM#: 601029,180860Index Terms: PEG1/MEST,delta2-COP, Silver-Russell syndrome (SRS)No band
- Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y.: De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment. Clin. Dysmorphol. 17: 31-34, 2008. [PubMed: 18049078]46,XX,t(7;10)(q31;p14)dnThe 8 year old patient presented with precocious puberty, moderate MR, and severe speech impairment.Aberration: Reciprocal translocation
- Kuwano A, Sugio Y, Murano I, Kajii T: Common fragile sites induced by folate deprivation, BrDU and aphidicolin: their frequency and distribution in Japanese individuals. Jpn. J. Hum. Genet. 33:355-364, 1988. [PubMed: 3144619]This site is unique to folate deficiency.Aberration: Fragile sitesPositive band
- Lindenbaum R H, Bobrow M: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47- or 45- chromosome offspring. J. Med. Genet. 12:29-43, 1975. [PMC free article: PMC1013228] [PubMed: 123589]Case 3 (MB/351) in this report.Individual I-2 in the pedigree.46,XX,t(7;21)(q31;q22).Aberration: Simple translocationPositive band
- Menacarelli M A, Katzaki E, Papa F T, Sampieri K, Caselli R, Uliana V, Pollazzon M, Canitano R, Mostardini R, Grosso S, Longo I, Srianai F, Meloni I, Hayek J, Balestri P, Mari F, Renieri A.: Private inherited microdeletion/microduplications: Implications in clinical practice. Europ. J. Med. Genet. %1: 409-416, 2008. [PubMed: 18657637]10/84 patients were found to have (CNVs) copy number variations.deletiond: 7q31, 14q21.1, and Xq25; duplications: 12p11.22, 12q21.31, 13q31.1, 17q12, Xp22.31, and Xq28.At least 5 of these may be related to the phenotype: mild to severe MR and MCA.Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-Index Terms: Array-CGH
- Sachs E S, Jahoda M G J, Kleijer W J, Pijpers L, Galjaard H: Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases. AJMG 29:293-303, 1988. [PubMed: 3354601]
Sachs E S, Van Hemel J O, Galjaard H, Niermeijer M F, Jahoda M G J: First trimester chromosomal analysis of complex structural rearrangements with RHA banding on chorionic villi. Lancet ii:1426, 1983. [PubMed: 6140529]Case 16, 83-13.46,XX,t(7;8)(q31;p21)t(9;17)(p21;q23).,46,XX,der(7),der(8),t(7;8)(q31;p21),der(9)t(9;17) (p21;q23).The fetal karyotype was unbalanced.Aberration: RT,DTPositive band - Turleau C, Chavin-Colin F, de Grouchy J: Cytogenetic investigation in 413 couples with spontaneous abortions. Europ. J. Obst. Gynecol. Reprod. Biol. 9:65-74, 1979. [PubMed: 264085]Laboratory register No. 8799.t(7;9)(q31;q21).Aberration: Simple translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Positive band
- Vogel W, Siebers J W, Reinwein H: Partial trisomy 7q. Ann. Genet. 16:277-280, 1973. [PubMed: 4544093]46,XX,t(7;21)(q31;p13).,46,XX,der(21)t(7;21)(q31;p13)mat.,46,XX,der(21)t(7;21)(21qter->21p13::7q31->7qter)mat.Aberration: Simple translocationPositive band
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-. 07q310.