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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Cox H, Stewart H, Hall L, Donnai D.: Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms. AJMG 109:306-310, 2002. [PubMed: 11992485]Patient 1 (mother)=mos46,XX[15]/46,XX,dup(7)(p15.3p22)[75].,Patient 2=46,XY,der dup(7)(p15.3p22)mat-amniotic fluid and blood.Ultrasound scan of the fetus at 21 weeks detected the fetal anomalies: cerebral ventriculomegaly, bilateral hydronephrosis, and persistently clenched fists. The male infant was delivered at 30 weeks and has MCA. Mother is 40 years old, has never lived independently, and has a history of global intellectual impairment, rebellious behavior, and psychosis of unknown cause in adult life.FISH with 7p telomere probe shows only one signal.Aberration: DuplicationChromosomal Aneuploidy: 7p+
- Grebe T A, Stevens M A, Byrne-Essif K, Cassidy S B: 7p deletion syndrome: an adult with mild manifestations. AJMG 44:18-23, 1992. [PubMed: 1519644]Patient RC was 24 years old and was evaluated for minor anomalies.46,XX,del(7)(p15.3p21.2 or 3)de novo.The patient had borderline mental retardation, short stature, minor facial anomalies, severe skeletal changes; but did not have craniosynostosis.Aberration: Interstitial deletionChromosomal Aneuploidy: 7p-Index Terms: CraniosynostosisNegative band
- Kleczkowska A, Fryns J P, Van den Berghe H: Pericentric inversions in man: personal experience and review of the literature. Hum. Genet. 75:333-338, 1987. [PubMed: 3570287]46,XX,inv(7)(p153q112)mat,1qh+mat.Aberration: Inversion pericentricNegative band
- Motegi T, Ohuchi M, Ohtaki C, Fujiwara K, Enomoto S, Hasegawa T, Kishi K, Hayakawa H: A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21. Hum. Genet. 71:160-162, 1985. [PubMed: 4043965]Patient was 5 months old.46,XY,del(7)(p15.3p21.3).Aberration: Interstitial deletionMIM#: 123100Index Terms: CraniosynostosisNegative band
- Stankiewicz P, Thiele H, Baldermann C, Kruger A, Giannakudis I, Dorr S, Werner N, Kunz J, Rappold G A, Hansmann I.: Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus. AJMG 103:56-62, 2001. [PubMed: 11562935]46,XY,der(Y)t(Y;7)(p11.32;p15.3).The 3 month old boy had growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay.FISH studies with several 7p probes confirmed the trisomy.Aberration: Simple translocationMIM#: 601622Chromosomal Aneuploidy: 7p+Index Terms: TWIST locus
- Stetka D G, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1265.46,XX,inv(7)(p15.3q36).Aberration: Inversion pericentricNegative band
- Tsuji K, Narahara K, Kikkawa K, Murakami M, Yokoyama Y, Ninomiya S, Seino Y: "Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation." AJMG 49:98-102, 1994. [PubMed: 7909651]
Tsuji K, Narahara K, Yokoyama Y, Grzeschik K H, Kunz J.: The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus. Hum. Genet. 95:303-307, 1995. [PubMed: 7868123]46,XY,t(6;7)(q16.2;p15.3)de novo.Patient, 3 years old, was evaluated for cranial anomaly.Aberration: Reciprocal translocationMIM#: 218500Index Terms: CraniosynostosisNegative band - Wang C, Maynard S, Glover T W, Biesecker L G: Mild phenotypic manifestation of a 7p15.3p21.2 deletion. J. Med. Genet. 30:610-612, 1993. [PMC free article: PMC1016466] [PubMed: 8411039]46,XX,del(7)(p15.3p21.2)de novo.Patient was 4 years 8 months old.Aberration: Interstitial deletionChromosomal Aneuploidy: 7p-Negative band
- 07p153 - Chromosomal Variation in Man07p153 - Chromosomal Variation in Man
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