case_images: PMC7934206_01
case_images: family pedigree
case_images: PAMJ-37-349-g001.jpg
case_images: PMC7934206_01_PAMJ-37-349-g001.jpg
case_images: F1
case_images: 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.
case_images: clinical characteristics of our patient: A) facial phenotype; B) ogival palate; C) brachydactyly and clinodactyly of the fifth finger; D) valgus
case_images: PAMJ-37-349-g002.jpg
case_images: PMC7934206_01_PAMJ-37-349-g002.jpg
case_images: F2
case_images: There were no other malformations or organ dysfunctions (Figure 2).
case_images: (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)
case_images: PAMJ-37-349-g003.jpg
case_images: PMC7934206_01_PAMJ-37-349-g003.jpg
case_images: F3
case_images: 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).