Biomaterial Database

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter. 1993

N Morichon-Delvallez, and A L Delezoide, and M Vekemans

Service d'Histologie, Embryologie et de Cytogénétique, Hôpital Necker-Enfants, Malades, Paris, France.

We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data indicate that the terminal region of the long arm of chromosome 7 contains genes implicated in the development of the central nervous system and the caudal region.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002892	Chromosomes, Human, Pair 22	A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.	Chromosome 22
D002897	Chromosomes, Human, Pair 7	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 7
D005315	Fetal Diseases	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.	Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012447	Sacrum	Five fused VERTEBRAE forming a triangle-shaped structure at the back of the PELVIS. It articulates superiorly with the LUMBAR VERTEBRAE, inferiorly with the COCCYX, and anteriorly with the ILIUM of the PELVIS. The sacrum strengthens and stabilizes the PELVIS.	Sacra,Sacral Vertebra,Sacral Vertebrae,Sacrums,Vertebra, Sacral,Vertebrae, Sacral
D014178	Translocation, Genetic	A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.	Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014463	Ultrasonography	The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.	Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic
D016142	Holoprosencephaly	Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.	Alobar Holoprosencephaly,Arhinencephaly,Lobar Holoprosencephaly,Semilobar Holoprosencephaly,Holoprosencephaly, Familial Alobar,Alobar Holoprosencephalies,Arhinencephalies,Holoprosencephalies,Holoprosencephalies, Alobar,Holoprosencephalies, Lobar,Holoprosencephalies, Semilobar,Holoprosencephaly, Alobar,Holoprosencephaly, Lobar,Holoprosencephaly, Semilobar,Lobar Holoprosencephalies,Semilobar Holoprosencephalies