The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Search Results

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 Lennon_ASHG2006 46, XY, der(7)del(7)(q31.1q31.31) ins(10;7)(q24.3;q31.1q31.31) mat specific language impairment q31.1 q31.31       FOXP2, WNT2 were deleted; Lennon et al., ASHG 2006, Program # 634 Edit
2 19797137_B 46,XX,t(7;13)(q31.1;q13.2) spastic dysarthria, speech apraxia q31.1   114064876/114064883   19797137 B, mother of T KE family, FOXP2 disrupted - bp within intron 6, language and cognitive deficits in other family members Edit
3 19797137_T 46,XX,t(7;13)(q31.1;q13.2)mat spastic dysarthria, speech apraxia q31.1   114064876/114064883   19797137 T, daughter of B KE family, FOXP2 disrupted - bp within intron 6, language and cognitive deficits in other family members Edit
4 ECACC_98040607 46, XX, del(7)(q31.2q32.2) speech delay, developmental delay, mild global hypotonia, numerous food allergies and mineral deficiencies, ADHD q31.2 q31.2 RP11-563O5 RPCI-11-297O10/ RPCI-11-80N8 98040607 (cell line: KW0001); 10203 14-Mb deletion of paternal origin; proximal breakpoint lies within intron 5 of FOXP2; www.ecacc.or.uk Edit
5 10880297_CS 46, XY, t(5;7)(q22;q31.2) de novo speech and language disorder (developmental verbal dyspraxia), mild motor delay, can't laugh spontaneously or sneeze q31.2   SHGC-82682/ SGC33824   10880297, 11586359, 17033973 CS, ECACC No. 99030102 (cell line: KW0008) breakpoint at 7q31.2 was localized in 200-bp region between exons 3b and 4 of FOXP2; none of his siblings (1 full, 2 half) were affected; www.ecacc.org.uk Edit
6 16470794_1 46, XX, del(7)(q31.2q32.2)(D7S486-, D7S522-) de novo, WBS inv-2 speech-language disorder (developmental verbal dyspraxia), autism-like, dysmorphic features, mild developmental delay, unable to cough/sneeze/l augh spontaneously q31.2 q32.2 D7S471/ CIT-D-2023N18 RP11-35B6/ D7S530 16470794, 17033973 13583; patient 4 [17033973] 15-Mb deletion of paternal origin; 51 known genes deleted, including FOXP2, CFTR, CORTB2, KCND2, CADPS2, SPAM1, GRM8 and PAX4; Zeesman et al., ASHG2004, Program #738 Edit
7 17033973_6 46, XX, t(3;7)(q23q31.2) developmental verbal dyspraxia q31.2   G248P8397G1/ G248P84222A8   17033973 patient 6, 28577 breakpoint at 7q31.2 lies between exons s1 and s2 of the longest known isoform of FOXP2 Edit