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Table 1 Clinical findings in subjects with chromosome der(4) involving t(2;4)(q3;q3)

From: Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat

ReferenceRashidi-Nezhad et al., 2012 [2]Ronzoni et al., 2015 [3]Ronzoni et al., 2015 [3]The present case
Karyotype46,XY,der(4)t(2;4)(q34;q34)mat46,XY,der(4),t(2;4)(q35;q35)pat46,XX,der(4),t(2;4)(q35;q35)mat46,XY,der(4)t(2;4)(q34;q35.2)pat
array comparative genomic hybridizationarr2q34-q37.3(209,778,861-242,706,291) x 3mat,arr4q34.2q35.2(177,717,642-191,220,565)x1mat.arr2q35-q37.3(216,850,125-243,007,359) x3pat,4q35.1-q35.2(184,605,094–190,896,674)x1pat.arr2q35-q37.3(216,850,125-243,007,359)x3mat,arr4q35.1-q35.2(184,605,094-190,896,674)x1mat.arr2q34-q37.3(210,718,096-241,840,106)x3pat,arr4q35.2(188,545,291-190,036,305)x1pat.
Trisomy2q34-q37.32q35-q37.32q35-q37.32q34-q37.3
Monosomy4q34.2-q35.24q35.1-q35.24q35.1-q35.24q35.2
Normal birth measurements+++
Hypotony at birth+++
Microcephaly
Brachycephaly+++
Prominent forehead+
Hypertelorism+
Down slanting palpebral fissures+
Ears abnormalities++++
Sensorineural hearing loss+++
Depressed nasal root+
Nasal anomalies+++
Long philtrum+
Thin upper lip++
High palate+++
Digital anomalies++++
Heart Malformations
Genitourinary anomalies++++
Growth retardation+
Psychomotor delay++++
Intellectual disability++++