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 17103460 46, XX, dup(7). ish dup(7)(pter-> p13::p22.1-> qter)(wcp7+) de novo IUGR, mental retardation, developmental delay, stereotypic behaviour (holding the hands in front of the face and bending of legs), hypotonia, microcephaly, large anterior fontanel, hypertelorism, high forehead, hypertelorism, slight downslanting palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger, abnormal palmar creases p22.1 p13     17103460     Edit
2 12136233_6 46, XX, der(7)t(7;7)(p22;q36) de novo intrauterine growth retardation, left ventricular hypertrophy with significant septal hypertrophy of the heart, dysplasia of the right hip, significant muscular hypotonia, dysmorphic features, significantly wide-open fontanelle, speech delay, scoliosis, inspiration stridor because of partial tracheomalazia p22 q36     12136233 case 6 monosomy of 7q36-qter and trisomy of 7p22-pter Edit
3 17937435_1 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p21.3   RP11-125A23/R P11-482M1   17937435 proband NXPH1 identified at bp Edit
4 8266989_proband 46, XY, t(2;7)(p23;p22) mat Saethre-Chotzen syndrome, turribrachycephaly, overlapping coronal and lambdoid sutures, open fontanelles, bifid uvula, moderate hearing loss, developmental delay p21.2   CTD-2110P21/ GDB:1318450   8266989, 7977380, 14513358 proband [8266989], M1389S [14513358], MCN ID: 19930014-999 breakpoint in a 10-kb region 260kb 3 Edit
5 10494083 46, XY, der(21)t(7;21)(p21.2;q22.3) mat mental and physical retardation, larege anterior fontanel, brachycephaly, hypotonia, ocular hypertelorism, high narrow palate, small mandible p21.2       10494083, 12818527 propositus (case 42) trisomy of 7p21.2-pter; mothe had balanced t(7;21) Edit
6 11303510 46, XY, der(8)ins(8;7)(p23.1;p21p13) de novo delayed closure of larger anterior fontanelle, mental retardation, cardiac septal defect, long face, low-set ears, long nose with broad nasal bridge, bushy eyebrows, mild ptosis of eyelid, convergent strabismus, hypertelorism, deep and short philtrum, thin upper lip, small mouth, high arched and narrow palate, bifid uvula, kyphoscoliosis, thin ribs p21.2 p13 D7S664/ D7S2557   11303510   trisomy of 7p21.1-p13 (including the TWIST, HOXA, GLI3) Edit
7 18568304 46,XY, der(9)t(7;9)(p21.2;p24.1).ishder(9)t(7;9)(wcp7+,9 pter-,7pter+)mat developmental delay, mental retardation, no speech, hypothyroidism, trigonocephaly with prominent forehead, hypertelorism, cleft palate, low-set ears, cryptorchidism, hypospadias, bilateral ptosis, bilateral coax valga deformity, right hip sublaxationlarge anterior fontanel, hypotonia, high frequency hearing loss, seizures, asthma, otitis media, enlarged aorta, seminoma p21.2       18568304 proband family history significant for birth defects and/or miscarriages Edit
8 Ohba1993_2 4?, X?, t(7;8)(p21.1;p23.2) mat [der(8)t(7;8)(p21.1;p23.2) or +der(8)t(7;8)(p21.1;p23.2) inferred] growth retardation, psychomotor retardation, hypertelorism, wide fontanels/sutures, high/prominent forehead, high arched palate/cleft p21.1       12818527, 10494083 case 2 [Ohba et al., 1993], case 1 [12818527], case 40 [10494083] trisomy of 7p21.1-pter; first reported in Ohba et al., 1993, Teratology 48: 502 Edit
9 8280871_baby 69, XXX, rec(7)dup(7p)inv(7)(p21q32), rec(7)dup(7q)inv(7)(p21q32) pat prominent occiput with open posterior fontanelle, low-set and small ears, iris colobomata, microphthalmia, possible glaucoma, hypotelorism, prominent nose, microstomia, hypoplastic external genitalia, bilateral complete 3/4 syndactyly of fingers, syndactyly of VI-V toes on the left, equinus deformity on the right foot, holosystolic murmur, enlarged heart, died the day after birth p21 q32     8280871 baby balanced rearragement Edit
10 11562935 46, XY, der(Y)t(Y;7)(p11.32;p15.3) mentagrowth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, severe developmental delay l retardation p15.3       11562935   trisomy of 7p15.3-pter; TWIST gene is translocated onto der(Y) Edit
11 Schmidt_1987 4?, X?, der(9)t(7;9)(p15;p?) mat dolichocephalus, delayed closure of fontanels, high forehead, hypertelorism, microphthalmia, low-set ears with malformed auricles, low & broad nasal bridge, micrognathia, short neck, hypotonia, cardiac defects, simian crease p15       2692511, 10494083 case 4 [2692511], case 23 [Table 2, 10494083] trisomy of 7p15-pter; Schmidt & Gillessen-Kaesback, 1987, Ann Univ Sarav Med Suppl 7:271-272 Edit
12 6678317_1 46, XY, der(11)t(7;11)(p15;q25) mat pyschomotor retardation, growth retardation, wide anterior fontanel, left esotropia, sacral dimple, bilateral undescended testis p15       6678317, 2679090, 8839888, 10494083 case 1 [6678317], Ref. 17 [8839888], case 22 [10494083] trisomy of 7p15-pter; mother had balanced t(7;11) Edit
13 7083611_2 46, XX, der(21)t(7;21)(p15;p12) mat severe developmental retardation, distinctive facies, large anterior fontanel, low-set ears, heart murmur, feeding problems p15       7083611, 7083611, 2679090, 2692511, 2363431, 10494083 case 2 (Erlangen) [7083611], case 9 [2692511], case 21 [10494083] trisomy of 7p15-pter Edit
14 Willner_1977 4?, X?, der(5)t(5;7)(q?;p15) pat asymmetry cranium, delayed closure of fontanels, hypertelorism, low-set ears, choanal atresia, micrognathia, malposition of feet, arachnodactyly, contractures of fingers joints p15       2692511, 10494083 case 8 [2692511], case 19 [Table 2, 10494083] trisomy of 7p15-pter; Willner et al., 1977, Pediatr Res 11(?):530 Edit
15 MCN_19990007-227 46, XX .rev ish dim(7p15p15) de novo small hand, abnormal ear shape/structure, hypertelorism, frontal bossing, short foot (including brachydactyly), large fontanelle, retroverted ears, other clinodactyly of fingers, low set ears p15 p15     MCN ID: 19990007-227 www.mcndb.org Edit
16 17937435_2 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p14.1 p14.1 RP11-786M13/R P11-164E6 RP11-2J17/RP11-429N13 17937435 proband ~5.1 Mb deletion, localized on translocation derivative Chr. 7 Edit
17 2606480 46, XX, inv(7)(p12q11.23) de novo Zellweger syndrome; hypotonia, high and bossed forehead, wide anterior fontanel, narrow palpebral fissures, short nose with depressed nasal bridge, malformed large ears, micrognathia, heart defects p12 q11.23     2606480     Edit
18 699358_proband 46, XY, der(14)t(7;14)(p11;p11) mat dolicocephaly, wide fontanelle, hypertelorism, antimongoloid slanting of the palpebral fissures, congenital dislocation of the shoulders and hips, possible cardiac defect, mental retardation p11       699358, 7083611, 2679090, 2692511, 2363431, 10494083 proband [699358], case 2 [2692511], case 4 [10494083] trisomy of 7p11-pter Edit
19 2225528_3_2 46, XY, der(2)t(2;7)(q37.3;q11.1), i(7)(p10) de novo patent ductus arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay p10       2225528, 7702099, 10494083 case 3 (BWIS#2074) [2225528], case 2 [10494083] trisomy of 7p Edit
20 Pearson_A319 46, XY, dup(7)(p11-pter) large anterior fontanelle, hypertelorism, downslanting palpebral fissures, high arched palate, micrognathia, lowset ears, congenital heart defect, cryptorchidism, hypospadias, postaxial polydactyly, syndactyly, clinodactyly, absent toenails pter p11       Pearson et al, abstract, A319 Edit
21 16758186 46, XX, dup(7p) de novo abnormally wide anterior fontanelle, stippling in the greater trochanters, bilateral mild clinodactyly of III & V toes; died 10 days after birth pter cen     16758186     Edit
22 19480332 46,XX,der(2)t(2;7)(p23;p13)mat severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, hypertelorism, strabismus, nystagmus, broad nasal bridge, rounded nasal tip with anteverted nares, low-set ears, long philtrum, micrognathia, partial cleft palate, short webbed neck, broad distal digits, abnormal palmar creases, joint contractures, cardiovascular anomaly pter p13     19480332 proband mother has balanced translocation Edit
23 22795105_1 46,XY,der(2)t(2;7)(q36.2;p15.1)mat.arr 2q37.1qter(234,602,276-243,041,3 05)x1,7p15.3pter(65,558-22,869,3 38)x3,16p13.11(14,968,855-16,2 92,235)x3 bilateral ventriculomegaly, agenesis of corpus callosum, polydactyly of right hand, thin upper lip with thick lower lip, large anterior fontanelle pter p15.3     22795105 aborted fetus ~22.8 Mb, advanced maternal age Edit
24 2225528_3_1 46, XY, der(2)t(2;7)(q37.3;q11.1), i(7)(p10) de novo patent ductus arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay q11.1       2225528, 7702099, 10494083 case 3 (BWIS#2074) [2225528], case 2 [10494083] trisomy of 7p Edit
25 NIGMS_GM07081/GM07082 46, XY, -15, +der(7)t(7;15)(q11.2;q11.2) mat microcephaly, hypertelorism, cleft palate and gingiva, left club foot, large fontanelle, congenital dislocation of shoulders and hips, congenital heart disease, failure to thrive, and developmental delay q11.2       GM07081 (skin), GM07082 (lung) trisomy of 7q11.2-qter; fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
26 DGAP_168 46, XY, t(7;15)(q21;q26) developmental delay, speech delay (expressive delay greater than receptive delay), open anterior fontanelle, large head in comparison to body, prominent forehead, upslanting palpebral fissures, right single palmar crease, long eyelashes, thin upper lip, right 5th toe clinodactyly, hypoplastic 5th toenails bilaterally, failure to thrive, feeding problems, weight below 5th percentile, height 10-25th percentile q21       168 http://www.bwhpathology.org/d gap/ Edit
27 3070043_11 46, XX, der(9)t(7;9)(q21;p24) pat low birth-weight, short stature (prenatal onset), scaphocephaly, asymmetrical skull, trigonocephaly, microcephaly, delayed closure of/large fontanelle, generalized hirsutism, high frontal hairline, high forehead with frontal bossing, low-set ears, attached ear lobule, hypertelorism, prominent eyes, arched eyebrows, palpebral fissures slant down, depressed/flat nasal bridge, flat face, low posterior/trident hairline, short neck, kyphosis, scoliosis, wide spaced nipples, hypertrophy of labia minora, single palmar crease, skin syndactyly of fingers; died on Day 11 after birth q21       3070043 case 11 trisomy of 7q21-qter Edit
28 9718347_SV 46, XY, der(9)t(7;9)(q21.1;p24) mat small & beaked nose, micrognathia, low-set, posteriorly rotated ears, widely separated and continuous anterior and posterior fontanelles, long fingers and toes, scoliosis, joint contractures, sacral dimple, complex congenital heart disease including patent ductus arteriosis, ventricular septal defect, atrial septal defect and hypoplastic aortic arch, ambiguous genitalia, rudimentary uterus q21.1       9718347, 11536263 SV trisomy of 7q21.2-qter; first reported in Begleiter et al., 1995, Am Hum Genet 57: A107 Edit
29 24124006 46,XY.arr 7q21.11(83,659,338-83,809,2 70)x1 pat [hg18] short stature, skeletal anomalies of the thorax, congenital heart defect, camptodactyly, motor development delay, barrel chestwith prominent sternal plate, low-set, backwards rotated ears, epicanthal folds, thin eyebrows, broad nasal root, prominent nasal tip with flaring nares, long philtrum, small mouth,retractedchin, wide fontanels, small sacraldimple, small hemangioma,i nverted left nipple, fetal toe pads, tapering of fingers, broad thumbs, short neck, kyphosis, hyperlordosis q21.11 q21.11     24124006   ~150 kb deletion; discussion of SEMA3A as candidate gene Edit
30 2301476 46, XY, del(7)(q21.3q31.3) de novo developmental delay, microcephaly, widely patent sutures and fontanels, hypertelorism, low-set malformed ears, broad philtrum, wide mouth, micrognathia, ectrodactyly of the right hand, absence of lower limbs, congenital hearing loss, corpus callosum agenesis, ASD, cloudy corneas q21.3 q31.3     2301476, 15692208, 7616545, 11045577, 8782053 ref. A (our case) [2301476], ref. 8 [8782053] first reported in Higgins et al., 1987, Am J Hum Genet 41:122A Edit
31 24167464 46,XX.arr 7q21.3q31.1(96,742,140-109,246,0 85)×1 dn congenital glaucoma, abnormal MRI, psychomotor retardation, cleft palate, heart defect, big eyes, blue sclerae, wide fontanelles, prominent eyebrows, low-set ears with overfolded helix, upslanting palpebral fissures, telecanthus, bulbous nasal tip, hypoplastic nasal alae, short columella, thin lips, marked Cupid’s bow, micrognathia, bilateral single palmar crease, bilateral fifth finger clinodactyly q21.3 q31.1     24167464   ~12.5-Mb deletion Edit
32 Muneer_A383 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails, clinodactyly, enlarged clitoris, short sternum and delayed growth and development q22         Muneer et al, abstract, #383, Am J Hum Genet 34:A137 Edit
33 Muneer_1982 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails, clinodactyly, enlarged clitoris, short sternum and delayed growth and development q22       11536263   Muneer et al, 1982, Am J Hum Genet 34: A137 Edit
34 19161136 46,XY,der(21)t(7;21)(q32;q22.3)mat Silver–Russell syndrome, hypogammaglobulinemia, bilateral inguinal hernia, subcostal retractions,b ilateral crackles, perimembranous ventricular septal defect, prominent forehead, triangular face, large fontanelle,l ow-set ears, small mouth, thin upper lip, high archedpalate, strabismus, bilateral single palmer transverse crease, kyphoscoliosis,l imb asymmetry, clubfoot q22.3       19161136   mother had three miscarriages and is carrier of translocation Edit
35 18564498 46,XY,der(7)dup(7)(q?)der(9))del(9)(p?)t(7;9)(q33;p23)pat West syndrome, severe psychomotor retardation, prominent metopic suture, epicanthal folds, strabismus, low-set ears, microretrognathia, large anterior fontanel, bilateral simian creases, muscular hypotonia, hypsarrythmia, myelinisation delay q33       18564498   26Mb terminal 7q duplication detected by FISH Edit
36 12868476_1 46, XX, der(13)t(7;13)(q34;q34). ish der(13)t(7;13)(D13S1152/D 13S261+, D7S550+) mat wide-open fontanelles, frontal bossing, small palpebral fissures, epicanthic folds, small nose, depressed nasal bridge, malformed/low set ears, short neck, palatal anomaly, cerebral malformations, profound hypotonia, arthrogryposis, club feet q34   D7S500/ D7S550   12868476 patient 1 trisomy of 7q35-qter; child of 12868476_mother Edit
37 16411217_IV-19 46, XX, der(7)t(7;13)(q34;q13) pat macrocephaly, wide-open fontanelles, broad cranial sutures, triangular face, cyclopia, proboscis, aniridia, narrow palate, prominent mandible, dysplastic & low-set ears, bilateral simian creases, omphalocele, pes valgus, lack of right kidney q34       16411217 IV-19 first cousin once removed of 16411217_II-6, second cousin of 16411217_IV-9 Edit
38 6199974_2 46, XX, del(7)(q35) de novo microcephaly, developmental delay, upslanting palpebral fissures with a depressed nasal bridge, mild micrognathia, small anterior fontanel, capillary hemangioma of the nose, small nose, long upper lip with prominent longitudinal ridges of the philtrum, lateral palatine ridges, hyperextensible fingers, clinodactyly of the 4th toes q35 qter     6199974, 8135290 patient 2   Edit
39 11494289_fetus 46, XY, inv(16). ish der(16)t(7;16)(q36;p13.3)inv(16)(p11.2q23.2) mat macrocephaly, delay closure of the fontanel, motor retardation, hypertelorism, broad forehead, broad and flat nose q36       11494289 fetus, second child trisomy of q36-qter Edit
40 8456851 46, XX, t(7;11)(q36;p11) [10]/ 46, XX [24] macrocephaly, large fontanelle, deep-set eyes, short and narrow palpebral fissures, small nose with flat bridge and narrow root, intermittent strabismus q36       8456851, 9779802 proposita   Edit