• 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 translocation
    Positive 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 translocation
    Index Terms: Cleft lip/palate,Ears ... accessory,Epicanthal folds,Microretrognathia,Muscles ... anomalies,Occiput ... prominent,Palpebral fissures ... narrow
    Positive 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 deletion
    MIM#: 211410
    Chromosomal Aneuploidy: 7q-
    Index Terms: Breast ... cancer
    Positive 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 translocation
    Positive 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 translocation
    Positive 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 translocation
    Positive 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 novo
    The breakpoint was mapped in the D7S2459-D5S643 interval.
    Aberration: Reciprocal translocation
    MIM#: 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 disomy
    Index 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)dn
    The 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 sites
    Positive 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 translocation
    Positive 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 deletion
    Chromosomal 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,DT
    Positive 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 translocation
    Index 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 translocation
    Positive band