PMC5688765_01
PMC5688765_02
a. Facial phenotype of patient with midface hypoplasia, broad and prominent front, mild hypertelorism, strabism, broad nasal bridge, long and smooth philtrum, thin upper lip. b. Posteriorly rotated ears and prominent antihelix
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PMC5688765_02_13039_2017_345_Fig1_HTML.jpg
Fig1
He also presented with short stature, microcephaly, facial dysmorphisms, such as facial asymmetry, midface hypoplasia, a broad and prominent forehead, mild hypertelorism, strabismus, a broad nasal bridge, a long and smooth philtrum, a thin upper lip, a high palate (Fig. 1a), and low-set ears with a prominent antihelix (Fig. 1b).
a. Small hands with pointed fingers, brachydactyly, bilateral fifth finger clinodactyly. b. Abnormal creases are observed. c. Small distal phalanges, metacarpal shortening
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Fig2
An X-ray of the hands showed a three-year delayed bone age, feet with an absence of mid-foot bone structures, such as cuneiform bones, only cuboid and navicular bones were observed, as well as bilateral hallux valgus, which was surgically repaired at 13 years old (Figs. 2c and 3b).
a. Feet with brachydactyly and severe bilateral hallux valgus. b. Metatarsal shortening and hypoplastic phalanges of all toes. Most notable is the thumb, which presents with valgus deviation of the last phalange
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PMC5688765_03_13039_2017_345_Fig3_HTML.jpg
Fig3
An X-ray of the hands showed a three-year delayed bone age, feet with an absence of mid-foot bone structures, such as cuneiform bones, only cuboid and navicular bones were observed, as well as bilateral hallux valgus, which was surgically repaired at 13 years old (Figs. 2c and 3b).
PMC5688765_03
a. Small hands with pointed fingers, brachydactyly, bilateral fifth finger clinodactyly. b. Abnormal creases are observed. c. Small distal phalanges, metacarpal shortening
13039_2017_345_Fig2_HTML.jpg
PMC5688765_03_13039_2017_345_Fig2_HTML.jpg
Fig2
An X-ray of the hands showed a three-year delayed bone age, feet with an absence of mid-foot bone structures, such as cuneiform bones, only cuboid and navicular bones were observed, as well as bilateral hallux valgus, which was surgically repaired at 13 years old (Figs. 2c and 3b).
a. Feet with brachydactyly and severe bilateral hallux valgus. b. Metatarsal shortening and hypoplastic phalanges of all toes. Most notable is the thumb, which presents with valgus deviation of the last phalange
13039_2017_345_Fig3_HTML.jpg
PMC5688765_03_13039_2017_345_Fig3_HTML.jpg
Fig3
An X-ray of the hands showed a three-year delayed bone age, feet with an absence of mid-foot bone structures, such as cuneiform bones, only cuboid and navicular bones were observed, as well as bilateral hallux valgus, which was surgically repaired at 13 years old (Figs. 2c and 3b).
a. Karyotype with G-banding. b. Normal and deleted chromosome 7 (arrows) from different metaphases; c. FISH for the 7p15 region on metaphase chromosomes; alpha satellite probe for chromosome 7 centromere (D7Z1) marked with green fluorochrome Q-BIOgene (one thin arrow), and locus specific probe for 7p15.2 (where the HOXA6-HOXA13 genes are normally located) marked with red fluorochrome-SureFiSH, Agilent (two thick arrows). Note that deleted chromosomes only have the green fluorescent probe and are missing the red fluorescent probe
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Fig4
Karyotype and Array CGH Agilent 60 K reported a 12.7 Mb deletion at 7p14.2p15.3 (Fig. 4a and b; ISCN 2016), which was confirmed by FISH with a specific 54.95Kb probe targeted to 7p15.2 inside the deleted region (Fig. 4c).
Array CGH of the patient. Array Agilent SurePrint G3 Human CGH microarray kit, 8x60K 46,XY.array [GRCh37/hg19] 7p15.3p14.3(22574164_35288260)x1dn (12,714,097 bp)
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Fig5
The specific nomenclature is as follows: 46,XY.ish del(7)(p15.2)(D7Z1+,HOXA6-,HOXA13-).arr[GRCh37/hg19] 7p15.3p14.3(22574164_35288260)x1dn (Fig. 5; ISCN 2016).