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Strong variable clinical presentation in 3 patients with 7q terminal deletion.
Genet Couns 1998; 9(1):5-14GC

Abstract

We report 3 patients with a 7q terminal deletion. The first, a 7 weeks old female, with a de novo 7q36-->qter deletion, was microcephalic and had a partial hypoplasia of the corpus callosum on the MRI-scan of the brain. The second, a 3 months old male, showed microcephaly, disproportionate growth retardation, truncal obesity and facial dysmorfism giving the clinical impression of a "microcephalic primordial dwarfism (osteodysplastic type)". At the age of 6 months he had developed a single maxillary central incisor suggesting a minimal form of holoprosencephaly (HPE). Additional FISH-studies showed a 7q36.1-->qter deletion, as the unbalanced product of a t(5;7)(q35.2;q36.1)pat. The de novo 7q36-->qter deletion in the third patient, a 5 years old female, was associated with borderline intelligence, mild microcephaly, small midface, choanal narrowing and a single maxillary central incisor as a minimal form of HPE. CT- and MRI-scan of the brain were normal. In these 3 patients extensive FISH analysis was performed to investigate the possible involvement of the HPE gene region on chromosome 7q36. The target gene for HPE, the Sonic hedgehog gene (SHH) as well as several other genes important for normal brain development (En2;HOX1,HTR5A) were found to be deleted in all three patients. Our findings stress the importance of 7q36 microdeletion studies in patients with even minimal signs of HPE, as relative microcephaly with small midface (choanal narrowing), agenesis/hypoplasia of the corpus callosum/septum pellucidum, thalamic fusion or a single maxillary central incisor.

Authors+Show Affiliations

Division of Molecular Cell Biology/Genetics, Maastricht University, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9555580

Citation

Frints, S G., et al. "Strong Variable Clinical Presentation in 3 Patients With 7q Terminal Deletion." Genetic Counseling (Geneva, Switzerland), vol. 9, no. 1, 1998, pp. 5-14.
Frints SG, Schrander-Stumpel CT, Schoenmakers EF, et al. Strong variable clinical presentation in 3 patients with 7q terminal deletion. Genet Couns. 1998;9(1):5-14.
Frints, S. G., Schrander-Stumpel, C. T., Schoenmakers, E. F., Engelen, J. J., Reekers, A. B., Van den Neucker, A. M., ... Fryns, J. P. (1998). Strong variable clinical presentation in 3 patients with 7q terminal deletion. Genetic Counseling (Geneva, Switzerland), 9(1), pp. 5-14.
Frints SG, et al. Strong Variable Clinical Presentation in 3 Patients With 7q Terminal Deletion. Genet Couns. 1998;9(1):5-14. PubMed PMID: 9555580.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Strong variable clinical presentation in 3 patients with 7q terminal deletion. AU - Frints,S G, AU - Schrander-Stumpel,C T, AU - Schoenmakers,E F, AU - Engelen,J J, AU - Reekers,A B, AU - Van den Neucker,A M, AU - Smeets,E, AU - Devlieger,H, AU - Fryns,J P, PY - 1998/4/29/pubmed PY - 1998/4/29/medline PY - 1998/4/29/entrez SP - 5 EP - 14 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 9 IS - 1 N2 - We report 3 patients with a 7q terminal deletion. The first, a 7 weeks old female, with a de novo 7q36-->qter deletion, was microcephalic and had a partial hypoplasia of the corpus callosum on the MRI-scan of the brain. The second, a 3 months old male, showed microcephaly, disproportionate growth retardation, truncal obesity and facial dysmorfism giving the clinical impression of a "microcephalic primordial dwarfism (osteodysplastic type)". At the age of 6 months he had developed a single maxillary central incisor suggesting a minimal form of holoprosencephaly (HPE). Additional FISH-studies showed a 7q36.1-->qter deletion, as the unbalanced product of a t(5;7)(q35.2;q36.1)pat. The de novo 7q36-->qter deletion in the third patient, a 5 years old female, was associated with borderline intelligence, mild microcephaly, small midface, choanal narrowing and a single maxillary central incisor as a minimal form of HPE. CT- and MRI-scan of the brain were normal. In these 3 patients extensive FISH analysis was performed to investigate the possible involvement of the HPE gene region on chromosome 7q36. The target gene for HPE, the Sonic hedgehog gene (SHH) as well as several other genes important for normal brain development (En2;HOX1,HTR5A) were found to be deleted in all three patients. Our findings stress the importance of 7q36 microdeletion studies in patients with even minimal signs of HPE, as relative microcephaly with small midface (choanal narrowing), agenesis/hypoplasia of the corpus callosum/septum pellucidum, thalamic fusion or a single maxillary central incisor. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/9555580/Strong_variable_clinical_presentation_in_3_patients_with_7q_terminal_deletion_ DB - PRIME DP - Unbound Medicine ER -