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Neurological expression of an inherited translocation of chromosomal 1 and 7

Nabil A. AlMajhad, Amal M. AlHashem, Inesse A. Bouhjar and Brahim M. Tabarki
Neurosciences Journal January 2017, 22 (1) 62-64; DOI: https://doi.org/10.17712/nsj.2017.1.20160436

Article Figures & Data

Figures

  • Figure 1
    Figure 1

    - The pedigree. The proband’s mother (II-2) was the balanced translocations carrier without clinical presentations. Patients III-1, III-3 and III-4 are normal. Patient III-2 had developmental delay, corpus callosum agenesis and congenital heart disease, but no genetic test was carried out for her. Patient III-6 died at the age of 6 years post cardiac surgery

  • Figure 2
    Figure 2

    - Clinical features of the patients. a, b) The craniofacial features include dysmorphism in the form of wide forehead, hypotelorism, and upturned nose. c) The brain MRI indicates complete agenesis of the corpus callosum (white arrow) with inferior vermis hypoplasia (arrowhead).

Tables

  • Table 1

    Clinical features of patients with translocation (1;7) and neurological phenotype.

    StudiesCytogenetic abnormalityHead/neckNeurological featuresNeuroradiologyOther malformations
    Chuang et al2t(1;7)(q32;q32)Small mouth, hypotelorism, flat noseFetal period, termination of pregnancyAlobar holoprosencephalyAbsence of ethmoidal and nasal bones
    Schinzel6,73 casest(1;7)(q32;q34)Cyclopic featuresNAHoloprosencephalyHydronephrosis
    Yan et al7t(1;7)(p22;q21)High Arched palate Narrowed mandibleAutism SchizophreniaNANA
    McPherson et al4et alett(1;7) (p22;q22)High Arched palate Narrowed mandibleAutism SchizophreniaNANA
    McPherson et al4et alett(1;7)(q21.3;q34)Coarse facial appearance, hirsutism, wide mouth, micrognathiaGDD, hypotonia, microcephalyNAAbsent nails, hypoplastic 5th finger
    Current study
    Patient 1t(1;7)1q42.3q44, 7q36.1q36.3Wide forehead, hypotelorismSeizures, GDD, microcephaly hypotoniaAgenesis of the corpus callosum, hypoplasia of the inferior vermisHypospadias Undescended testis
    Patient 2t(1;7)1q42.3q44, 7q36.1q36.3Wide forehead, hypotelorismGDD, microcephalyThick and abnormal corpus callosum, hypoplasia of the inferior vermisRight club foot
    Patient 3t(1;7) 1q42.3q44, 7q36.1q36.3Wide forehead, hypotelorismSeizures, GDD, microcephalyAtretic cephalocele, agenesis of corpus callosum, hypoplasia of the inferior vermisNA

    • NA - not available, GDD - global developmental delay

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