PMC7934206_01
family pedigree
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F1
Female patient, from Morocco, has 3 years, non-consanguineous, the second of two siblings (Figure 1), was referred to the medical genetic department of the Mohammed VI University Hospital in Marrakech for a dysmorphic syndrome, seizures, delayed growth, hypothyroidism and hypotonia.
clinical characteristics of our patient: A) facial phenotype; B) ogival palate; C) brachydactyly and clinodactyly of the fifth finger; D) valgus
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F2
There were no other malformations or organ dysfunctions (Figure 2).
(A,B,C) study of fluorescence in situ hybridization (FISH) in the metaphase showing terminal microdeletion of chromosome 1, short arm (p), lane 6, region 3 (1p36) (arrows)
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F3
A molecular cytogenetic study, by fluorescence in situ hybridization (FISH), specific locus probe set (LSI p58 (1p36) spectrum orange/telvysion 1p spectrum green/LSI 1q25 spectrum aqua) was performed and confirmed the presence of a heterozygous microdeletion in 1p36: ish del (1) (p36p36) (p58-/tel 1p-) (Figure 3).